Genetics and Genomics in Nursing Health Care 2nd Edition

Genetics and Genomics in Nursing
Health Care 2nd Edition

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Genetics and
Genomics
in Nursing and Health Care
viii Preface
5. Genomics and diseasemanagement

The three chapters in this focus area include thought-provoking issues regarding the benefits and risks of genetic
testing and the roles of various professionals in the genetic counseling process. Additionally, personalized health
care and "precision medicine," especially the variation in responses to drug therapy, are explored and explained.
6. Global genomic issues
The two chapters in this focus area concern the questions "How did we get here?" and "Where are we going?"
They explain the reasons why the predisposition and expression of some genetic disorders are greater for some
ethnic groups than for others. They also present issues and potential problems people are likely to face as they
rush into the genomic era of health care.
The style of presentation for the content of this textbook is direct, active, and clear. Health-care terms and
related physiological mechanisms are explained in common, everyday language to promote better student
understanding and continuous application of the content. Illustrations and tables were selected and devel-
oped to enhance student understanding of cellular activities, inheritance patterns, and genetic risks. The use
of color and new illustrations is expected to help achieve the goal of student understanding.
We have included key features in each chapter. Each chapter opens with a list of learning outcomes fol-
lowed by a list of key terms. Each key term is also presented in the chapter text and highlighted in boldface
when first used. A full alphabetical listing of key terms with definitions can be found in the glossary at the
end of the text. At the end of each chapter, there is a list of Gene Gems highlighting essential key points
for the student co take away from the reading. Students will also find self-assessment questions keyed to
the learning outcomes of the chapter. The answers for these can be found at the end of each chapter. Finally,
critical thinking case studies are located at the end of every clinical chapter. These realistic cases present issues
and problems that require clinical decision making about individual patients and families that are at increased
genetic risk for health problems.
Additional materials and study cools can be found on DavisPlus, including activities for critical thinking
and learning key terms, links to online genetics resources, and extensive teaching resources for instructors.
Janet Adams, MSN, RT (ARRT), RN Elizabeth Louise Pestka, MS, RN,
Instructor PMHCNS-BC, APNG
Southeast Missouri State University Assistant Professor of Nursing & Clinical Nurse
Cape Girardeau, Missouri Specialist
Mayo Clinic
Julie Baldwin, RN, MSN Rochester, Minnesota
Assistant Professor of Nursing
Missouri Western State University Michael A. Rackover, PA-C, MS
St. Joseph, Missouri PA Program Director & Associate Professor
Philadelphia University
Laurie Brooks, MSN, MBA, RN Philadelphia, Pennsylvania
Assistant Professor
Saint Luke's College of Health Sciences Catherine Read, PhD, RN
Kansas City, Missouri Associate Dean/Associate Professor
Connell School of Nursing, Boston College
Deborah Ellis, RN, MSN, NP-C Chestnut Hill, Massachusetts
Assistant Professor
Missouri Western State University Jackie Shrock, RN, BSN, MEd
St. Joseph, Missouri Nursing Program Coordinator/Teacher
Wayne County Schools Career Center
Kathleen T. Hickey, EdD, FNP-BC, ANP-BC Orrville, Ohio
Assistant Professor of Nursing
Columbia University Yona D. Victor, MD
New York, New York Full-Time Faculty
The School of Nursing at Platt College
Anita H. King, DNp, MA, FNP-BC, CDE, FAADE Aurora, Colorado
Clinical Associate Professor, College of Nursing
University of South Alabama Lottchen Wider, RN, PhD
Fairhope, Alabama Associate Professor
Maryville University
Judith A. Lewis, PhD, RN, WNP-BC, FAAN S(. Louis, Missouri
Professor Emerita
Virginia Commonwealth University
Richmond, Virginia
Carrie J. Merkle, PhD, RN, FAAN

Associate Professor
University of Arizona College of Nursing
Tucson, Arizona
ix
Many talented people are needed to make any textbook a success. The authors wish to acknowledge the fol-
lowing individuals for their guidance, dedication, hard work, constructive criticism, and creative input that
were so important to this project: Kelly Horvath, Amy Romano, and Susan Rhymer.
x
abla.ot.C
UNIT I Basic Concepts From Chapter 5 Epigenetic Influences
Molecular Genetics 1 on Gene Expression 96
Introduction 96
Chapter 1 DNA Structure and Function 2
Microbiome 100
Introduction 3
Epigenetics and Cancer 101
Genetic Biology 3
Nature and Nurture Working
DNA 5
Together 103
Chapter 2 Protein Synthesis 23 The Future of Epigenetics:
Introduction 24 Are There Clinical
Transcription 26 Applications? 105
Translation 30 Chapter 6 Autosomal Inheritance
Mutations 35 and Disorders 109
Summary 40 Introduction 109
Chromosomal Inheritance 110
Chapter 3 Genetic Influences on Cell
Division, Cell Differentiation, Common Chromosomal
and Gametogenesis 43 Disorders 115
Introduction 44
Summary 127
Normal Cell Biology 44 Chapter 7 Sex Chromosome
Early Embryonic Cell Biology 52 and Mitochondrial
Commitment and Inheritance
Differentiation 54 and Disorders 130
Gametogenesis 56 Introduction 131
Summary 65 Extra X Chromosomes 131
Extra Y Chromosomes 132
UNIT II Gene Expression 69 Monosomy 133
Chapter 4 Patterns of Inheritance 70 Genotype-Phenotype Gender
Introduction 70 Mismatch 135
Mendelian Inheritance 71 Fragile X Syndrome 138
Punnett Square Analysis Mitochondrial Gene
and Probability 84 Inheritance 140
Chromosomal Inheritance 85 Summary 147
Complex (Multifactorial) Chapter 8 Family History and Pedigree
Disease 85 Construction 152
Genomic Variation Influencing Introduction 152
Susceptibilityand Resistance
to Health Problems 89 Family History 153
Summary 92 Pedigree Construction 155
xi
xii Table of Contents
Punnett Squares 158 UNIT IV Genomic Influences

Pedigree Analysis 159 on Selected Complex
Summary 161 Health Problems 263
Chapter 9 Congenital Anomalies, Chapter 13 Cardiovascular Disorders 264
Basic Dysmorphology, Introduction 265
and Genetic Assessment 167 Atherosclerosis and Coronary
Introduction 168 Artery Disease 265
Major and Minor Anomalies 169 Stroke 268
Classification of Congenital Hypertension 271
Anomalies 170 Arrhythmias 272
Syndrome or Sequence 172 Cardiomyopathy 274
Dysmorphology Assessment 173 Summary 278
Assessment Through
Chapter 14 The Genetics of Cancer 283
a Genetic Lens 175
Benign Tumor Cells 284
UNIT III Genomic Health Problems Cancer Cells 286
Across the Life Span 189
Cancer Development 287
Chapter 10 Enzyme and Collagen Summary 299
Disorders 190
Chapter 15 Genetic Contributions
Introduction 191
to Psychiatric
Enzyme Disorders 191 and Behavioral
Collagen Disorders 200 Disorders 303
Chapter 11 Common Childhood-Onset Genetics Applications
Genetic Disorders 211 for the Psychiatric
Patient 304
Introduction 212
Autism 306
Monogenic Disorders 212
Attention-Deficit
Complex Disorders 226
Hyperactivity Disorder 308
Summary 234
Schizophrenia 309
Chapter 12 Common Adult-Onset AffectiveDisorders 311
Genetic Disorders 239 Substance Use Disorders 312
Introduction 239 Personality Disorders 314
Monogenic Disorders 240 Sununary 316
Complex Disorders 245
Diseases Affecting Older
Adults 253
Summary 257
Table of Contents xiii
UNITV Genomics and Disease UNITVI Global Genomic

Management 321 Issues 373
Chapter 16 Genetic and Genomic Chapter 19 Financial, Ethical, Legal,
Testing 322 and Social Considerations 374
Introduction 322 Introduction 374
Genetic Testing Samples 323 Ethical Goals of Clinical
Types of Genetic Tests 326 Genetics 375
Oversight of Genetic Testing 331 Genetic Discrimination 375
Laboratory Methods Used Duty to Warn Versus
for Genetic Testing 332 the Right to Privacy 378
Direct-to-Consumer Genetic Intellectual Property Rights
Testing 334 and Gene Patents 381
Risks and Benefits of Genetic Gene Therapy 381
Testing 334 Summary 383
Summary 337 Chapter 20 Genetic and Genomic
Chapter 17 Assessing Genomic Variation 387
Variation in Drug Response 341 Introduction 387
Introduction 341 Population Genetics 388
Pharmacodynamics 344 Race,Ethnicity, and Human
Pharmacokinetics 346 Genetic Variation 394
Genetic/Genomic Variations 350 Summary 395
Clinical Applications Appendices
of Pharmacogenomics 354
Appendix A Genetics Organizations
Genetic Testing for Drug
Response 356 and Support Groups 399
Summary 357 Appendix B Selected Educational
Websites 400
Chapter 18 Health Professionals
and Genomic Care 360 Glossary 402
Introduction 360 Index 423
Genetics Professionals 361
Role of General Nurses
in Genomic Care 364
Interdisciplinary Health -Care
Professionals 366
Summary 370
Basic Concepts From
Molecular Genetics
DNA Structure and Function
Learning Outcomes
1. Compare the components, structures, and forms of DNA.
2. Describe the events and processes involved in DNA replication.
3. Explain the formation and purpose of chromosomes.
4. Assess a karyotype for gender and ploidy.
5. Distinguish genotype from phenotype.
6. Explain how dominant gene alleles and recessive gene alleles determine expression of single-gene traits.
Key Terms
Allele Dominant trait Nucleoside
Aneuploid Euploid Nucleotide
Autosomes Gene p arm
Base pairs Gene locus Phenotype
Bases Genetics Ploidy
Centromere Genome Polyploidy
Chromatid Genomics Proteome
Chromosome Genotype Proteomics
Codominant trait Haploid chromosome number Recessive trait
Complementary pairs Heterozygous q arm
Deoxyribonucleic acid (DNA) Histones Sex chromosomes
Diploid chromosome number Homozygous Single-gene trait
DNA replication Karyotype
DNA synthesis Mitosis
2
INTRODUCTION
Genetics and genomics are common issues that have an impact on the health and well-being of everyone.
All health-care professionals are expected to be familiar with basic terminology and patterns of inheritance to
recognize when a patient or family has a possible genecic risk for a health problem. The use of genetics and
genomics can assist in developing health-problem prevention strategies and precision therapies that take into
account each person's genetic differences. This chapter presents informacion about basic genetics to help your
understanding of how this information can have an impact on caring for patients and families.
The terms genetics and genomics are often used interchangeably, although there are some differences.
Genetics is the study of the general mechanisms of heredity and the variation of inherited traits. Genomics
is the study of the function of all the nucleotide sequences present within the entire genome of a species,
including genes in deoxyribonucleic acid (DNA) coding regions and in the DNA noncoding regions. (Coding
regions and noncoding regions are discussed in Chapter 2.) These definitions indicate that genomics includes
genetics but has a broader scope.
GENETIC BIOLOGY
All living cells, even bacteria and other lower organisms, have genes. A gene is a specific set of instructions cells
use to produce a specific protein. Consider all the hormones, enzymes, and other proteins your body makes,
both those that exist as individual, identifiable substances and those that are parts of larger components. Some
genes tell each ceU what protein to make and how to make it, whereas other genes control a cell's protein-
making activity by determining when to make a specific protein and how much to make. Thus, a gene acts
as a specific "recipe" for making a protein.
Most genes are part of the DNA in the nucleus of body cells. Figure I-I shows a cell nucleus with DNA
in the form of chromosomes. Figure 1-2 depicts an enlarged chromosome to show that a chromosome is
composed of DNA and contains segments that are genes.
Figure 1-1 Human cell and its nucleus with

metaphase chromosomes.
Metaphasechromosomes
withinthe nucleus
• Maternal-originchromosome
• Paternal-originchromosome
4 Unit I Basic Concepts From Molecular Genetics
All human cells with a nucleus contain rwo sets of every gene that humans possess. This complete set of
genes for our species is called the human genome and contains between 20,000 and 25,000 individual genes.
(Mature germ cells-sperm and ova-contain only one set of every human gene.) The fact that all nucleated
cells contain all the human genes can be a confusing concept because no single cell type produces all the
proteins coded for by these genes. For example, only the thyroid gland normally produces thyroid hormones,
even though all cells have the genes for thyroid hormones. Although genes for thyroid hormones are present
in all cells, they are selectively activated and expressed exclusively in the thyroid gland, resulting in the pro-
duction of thyroid hormones. The activation of a gene allowing its product to be made by the cell is called
gene expression. In all other cell types, regulator genes prevent the structural genes for thyroid hormones from
being expressed.
The complete set of all proteins that a person makes at a given time under certain conditions is called the
proteome. This term combines the word protein and suffix -ome to indicate the totality of all proteins found
in a person, organ, tissue, or cell. The study of how proteins found in the proteome interact with each other
is known as proteomics. Proreornes can be examined for one cell type or for an entire organism. The protein
estrogen is part of the proteome for ovarian cells but is not part of the cardiac muscle cell (myocardial cell)
proteome. When considering the entire human proteome, we are looking at the proteins produced by all the
individual cellular proteomes. Proreornes are discussed in more detail in Chapter 2.
Although DNA appears different from a gene and from a chromosome, they are all the same substance.
DNA is the basic genetic chemical structure, containing gene-coding regions and noncoding regions, which
can be compressed into a chromosome form (see Fig. 1-2). A chromosome is a temporary but consistent
state of condensed DNA structure formed for the purpose of cell division. Chromosomes are discussed later
in this chapter. Just remember that genes and chromosomes are both composed of DNA. Consider a sweater
as a chromosome and each separate part of the sweater (right sleeve, left sleeve, pocket, collar, front, and back)
as a gene. Now consider that the entire sweater (chromosome) and its parts (genes) are composed of yarn
-- One small segment

01 DNA containing
Nucleated cell a single gene
~e_.A
Nucleus containing
Gene 2-
the entire genome

C-G
Centromere -A
C-G
One chromatid,-- A-
the longitudinal -A
half of a chromosome G-C
Chromosome composed of a large I Six base pairs

segment of DNA containing as many Double helix composed 01 12
as 1,000 individual genes 01 DNA individual nucleotides
Figure 1-2 Different forms of cellular (nuclear) DNA.

_Telomere
(telomericDNA)
parm
Insulin gene region (11q13){ h:~- ....

13.4
....,j
13.5
14.1
14.2
14.3
21
21.1 qarm
22.2
22.3
23.1
23.2
23.3
24- __ Figure 1-3 Banded chromosome 11 showing
25 -,---, locus of insulin gene (11q13) and the telomeres
Telomere (telomericDNA)____..
that "cap" the ends of the chromosome.
(DNA). A sweater is not a person's entire wardrobe, however, just like one chromosome and all the genes it
contains are not the entire genome. Think of the genome as being the entire wardrobe (all the person's shoes,
socks, underpants, undershirrs, pants, shirts, sweaters, coats, hats, gloves, and scarves). Each chromosome has
many genes within it. Larger chromosomes contain thousands of genes, and smaller chromosomes may have
fewer than 100 genes.
Another analogy for understanding how DNA, chromosomes, and genes are connected is to consider the
DNA of the genome to be a large recipe book with all the instructions (recipes) needed to make every protein
your body can produce. Each chromosome is a separate chapter, and the genes are the individual recipes. Each
gene has a specific chromosome location, called a gene locus; think of this as the "page" of the chapter where
the recipe is located. For example, the insulin gene's locus is llq 13, which means that the gene is located on
the long arm of chromosome 11 in region 13 (Fig. 1-3). When it is time to make more insulin, this is the
"page" where the recipe can be found, Although all ceLIshave the "recipe" for insulin on chromosome 11, it is
only opened and read by the beta cells of the pancreas. Other cells normally cannot "read" the insulin recipe
and do not make insulin. Protein synthesis, which is the process of manufacturing proteins, is discussed in
Chapter 2.
DNA
More than 99% of the human body's DNA is in the nucleus. This DNA is termed nuclearDNA. Cell
mitochondria also contain a small amount of DNA called mitochondrialDNA (mtDNA). This is discussed
in Chapter 3.
DNA Structure
The basic structure of DNA is a set of four nucleic acids. These nucleic acids are nitrogen-containing compounds
made in part from the individual amino acids derived from the proteins we eat. Because these elements are the
basic structure of DNA, they are called bases. These four bases are adenine (A), cytosine (C), guanine (G),
and thymine (T) (Fig. 1-4). Thymine and cytosine are single-ring strucrures known as pyrimidines. (Memory
hint: The words thymine and cytosine contain a Y, as does the word pyrimidine.) Adenine and guanine are
both double-ringed structures known as purines. (Memory hint: The words adenine, guanine, and purine do
not contain a Y) These four bases are present in the DNA of humans and other mammals, plants, bacteria,
and viruses.
Each base becomes a nucleoside when a five-sided sugar (known as a deoxyribosesugar) is attached to it (see
Fig. 1-4). Each nucleoside becomes a complete nucleotide when a phosphate group is attached The nucleotide
is the final form of a base that is placed into the DNA strand. The nudeorides within each strand are held in
position by the linked phosphate groups, which act like the string holding beads together to form a necklace.
Base pairs are the complementary bases in the twO strands of DNA. These DNA strands must remain
perfectly parallel to each other, and the pairings of the nucleotides make this happen. For double-stranded
DNA (dsDNA) to remain parallel, the twO strands must Stay the same distance apart down the total length of
DNA. A pyrimidine with a single-ring Structure always pairs up with a purine that has a double-ring structure
to maintain this proper distance (see Fig. 1-4). Not only must a purine always pair with a pyrimidine, but
the bases are also always specific, forming complementary pairs.
Normally, adenine and thymine always pair together, and cytosine and guanine always pair together
(Fig. 1-5). The reason for these specific and complementary pairings of bases is related to the forces that hold
the twO DNA strands together. The twO strands are held together loosely most of the time by weak hydrogen
T-A complementary base pair

I
One nucleoside -------;

(a base with its
deoxyribose
sugar attached)
One nucleotide ----

(a base with its
CoG complementary
deoxyribose
base pair
sugar and
phosphorus
attached)
Figure 1-4 Four bases arranged as nucleotides in complementary base pairs. A == adenine,
C == cytosine, G == guanine, T == thymine, DR == deoxyribose, P == phosphorus.
Linear and straight complementarystrands
Figure 1-5 Double-stranded (ds) DNA arranged as

complementary strands in a linear structure and a
loose double helix. T = thymine, A = adenine, C =
Same strands arrangedin a loose doublehelix cytosine, G = guanine.
bonds. Importantly, these weak bonds allow the (WO strands to separate easily during cell division when the
DNA is to replicate. This separation does not require a 10[of energy and can occur quickly. Within a base
pair, the hydrogen bonds form between the rwo nucleorides. Adenine and thymine each have a site for (WO
hydrogen bonds to form, whereas cytosine and guanine each have three sites for hydrogen bonds to form (see
Fig. 1-4). Although purines must always pair with pyrimidines. they can pair only with the base that can form
the same number of hydrogen bonds. Thus, under normal conditions, adenine can pair only with thymine,
and cytosine can pair only with guanine.
As mentioned, DNA in humans and other mammals is a linear, double-stranded structure with the nucleo-
tides of each strand connected by the phosphate groups as the backbone of the strand (see Fig. 1-4). These
two individual strands are held together loosely by hydrogen bonds. In this way, dsDNA is arranged like a
long set of railroad tracks. The long steel rails of the track are the phosphate backbones, and the bases of the
nucleotides are each half of the individual railroad ties (Fig. 1-6).
Complementary base pairs in DNA are specific because adenine normally pairs with thymine, and cytosine
normally pairs with guanine. This means that if the base sequence of one strand of DNA is known, the opposite
strand's sequence can be predicted accurately. For example, the left-hand strand of DNA in Figure 1-6 has
the sequence T-G-G-C-A-T-T-G from tOp to bottom. and the corresponding (complementary) right-hand
section has the sequence A-C-C-G-T-A-A-C. Except during cell division. the two parallel strands of DNA are
twisted into a loose helical shape (see Figs. 1-2 and 1-5). The DNA supercoils rightly into the chromosome
shape (which is visible with standard microscopes) only when a cell undergoes mitosis.
Billions of bases are found in the DNA of just one cell. In its most common shape, DNA can be seen
only by using an electron microscope; however. if the DNA of one cell could be pur together and stretched
OUt, it would be about 6 feet long. If this same piece of DNA from one cell could be made about a half-inch
wide, it would stretch out more than 1,000 feet! Each nucleus contains much more DNA than is needed
for the 20,000 to 25,000 genes. The gene part of the DNA is only about 5% of all the total DNA in each
cell's nucleus, with the remaining DNA (called noncoding DNA) playing various roles in regulating gene
expressIOn.
Complementarybase pairs
(railroadties)
3' 5'
~
Figure 1-6 An 8-base-pair segment of double-stranded (ds) DNA

similar to a section of railroad track. Phosphatelinkages(rails)
DNA Replication
Cell Division
Every time a cell divides, DNA replication occurs, which is duplication or reproduccion of itself, resulting in
two identical sets of DNA. This is needed because every cime a cell undergoes mitosis, a duplicacion division
results in two new cells that are idencical both to each other and to the original cell (parent cell) that began
the mitosis, and each cell must have a complete genome. For the two new cells created from mitosis to be
identical to the parent cell, the DNA of the parent cell must replicate exacrly. Mitosis occurs in a regulated
pattern known as the cell cycle. Figure 1-7 shows the phases of the cell cycle, which starts with one cell and
ends with two new cells. When mitosis is normal and the parent cell divides correcrly, each new cell has the
identical (and correct) amount of DNA and genes.
Cells not actively dividing are in a reproduccive rescing state known as Go- In this state, the cell is accively
performing its specific funccions but is not reproducing. For example, skin cells in the Go state produce keratin
and other skin products but do not reproduce. Normal cells are in the state of Go most of the time and leave
it only to reproduce when generacion of more cells is needed. To undergo mitosis, a cell first must be a cell
type capable of cell division. Some cells do nor divide once organ maturation is complete. Examples of these
nondividing cells include skeletal muscle cells, cardiac muscle cells, and neurons. If a cell has retained the
ability to divide when needed (e.g.. skin celis, bone marrow cells, liver cells, and epithelial cells that line most
organs), it will respond to signals to leave Go and enter the cell cycle. The cell cycle involves four phases.
Movement through these phases for successful generation of two new cells requires selective gene input. The
actions of these promitosis genes are discussed in Chapter 3. The acciviciesoccurring at each stage of the cell
cycle are outlined in Table 1-1.
DNA Synthesis
Generating twO new cells from one parent cell requires twice the DNA present in the parent cell. Notice in
Figure 1-7 that the nucleus during S phase is twice as large as it was during G. because it now has twice as
much DNA. This replication of the DNA ensures that the two new cells resulting from mitosis will each have
the same amount of DNA as the parent cell. The parent cell doubles its DNA content by DNA replication
in S phase. (Memory hint: S phase stands for synthesis of DNA.) To distinguish between the related concepts
of DNA replication and DNA synthesis, recall that DNA synthesis is the process of manufacturing DNA,
whereas DNA replication is synthesis resulting in two identical strands-an original and a replica, or copy.
One point to remember about human cellular DNA is that the complete genome within anyone cell is
not present as one very long double strand of DNA. Instead, there are 46 separate sets of dsDNA correspond-
ing to the 46 chromosomes (see Fig. I-I).These 46 metaphase chromosomes represent the 46 loosely coiled
double helices mat are not visible with a standard microscope.
G1 Phase
S Phase
G2 Phase
M Phase
Figure 1-7 Phases of the cell cycle for a cell undergoing mitosis.
.'!.1:J.::aIl!!lii!
Activities of the Cell Cycle
Cell Cycle Phase Activities/Purpose
G, Cell prepares for division by taking on extra nutrients, making more
energy, and growing extra membrane
Amount of cell fluid (cytoplasm) also increases
S DNA replication and synthesis
G2 Production of proteins important to cell division and to normal physiologic
function after mitosis is complete
M Mitosis in which the DNA in the nucleus pulls apart and creates two nuclei
(nucleokinesisl. followed by the cell separating into two cells, each with
one nucleus (cytokinesis)
DNA replication begins when the individual sets of dsDNA separate by breaking the hydrogen bonds
holding the two strands in the double-helix form (Fig. 1-8). Once they separate, enzymes at each end of the
strands read the sequence of the original strands and build two new strands that are complementary to the
original strands. DNA must be "read" in one direction to correctly place the new nucleotides during DNA
synthesis, JUStas written languages must be read in only one direction to make sense. These strands are read
from the 5' (' stands for "prime") end of the DNA to the 3' end (these numbers refer to the specific carbon
on the sugar molecule that connects with the phosphorous molecule). Because new bases can only be added
at the 3' end, building or reading from 5' to 3' is termed downstream, and reading from 3' to 5' is termed
upstream. At the end of DNA replication, rwo new sets of dsDNA representing each of the 46 chromosomes
are present in the cell. Each new set of dsDNA contains one strand of the original dsDNA and one newly
synthesized strand (Fig. 1-9). Because each of the two new sets of dsDNA contains one of the original strand,
this type of DNA synthesis is known as the semiconseruatiue model of DNA replication.
Thus, new complementary strands are synthesized along the old strands, using the old strands as a model
or template to place each new complementary base in the proper order. We tend to think that the new
strand is built in a continuous fashion, starting at one end and proceeding to the other. Such a process would
be very slow, taking weeks, which is not compatible with Lifeas we know it. Imagine building a 300-mile
(SOO-kilometer) road with construction beginning only at one end and proceeding at the rate of 2 miles
(1.2 kilometers) per year, taking about 150 years to complete. Instead, road construction starts at many places
at the same time so that only a few years are needed to complete it. In the same way, to make the process of
replication efficient and rapid (seconds to minutes), DNA synthesis begins at multiple SPOtSsimultaneously
within each set of separated DNA strands. This allows many thousands of DNA areas to be replicated at the
same time. When replication is complete, the individual newly synthesized pieces are then linked together as
a continuous strand.
Many enzymes are involved in DNA synthesis, and these enzymes have different activities important to
correct DNA replication. Some of these enzyme functions include the following:
• Relaxing and unwinding the DNA helix
• Breaking the hydrogen bonds of dsDNA and separating it into two single strands (ss) of DNA (ssDNA)
• Keeping the ssDNA separate
• "Reading" the original DNA strands and determining the base order for the new strands
• Placing the nucleorides in the order specified by the template strand
Breaking of hydrogen bonds and separation

of a section of original ds-DNA at the
beginning of DNA replication
Strand separation is --_ .........

followed by enzymes
reading the original strands
and starting to build
complementary strands
A section of double-stranded
DNA just before DNA replication
Figure 1-8 A section of double-stranded (ds) DNA during breaking of hydrogen bonds and separation
of the dsDNA at the beginning of DNA replication and the building of new complementary strands.
• Linking the separate pieces of newly synthesized DNA into a conrinuous strand
• "Spell-checking" the new strands of DNA to ensure that each base in the new strand is complementary
to its base pair on the original strand
Table 1-2 lim some of me differem enzymes and their roles in the DNA replication process.
Chromosomes
After the DNA has completely replicated, 46 chromosome structures develop as rightly packed forms of DNA
during the metaphase (M phase) of mitosis in the cell cycle. During M phase, one complete set of DNA moves
into one of the rwo new cells made during mitosis, and the second complete set moves into the oilier new
cell. Thus, the rwo new cells each have the right amount of DNA with all the genes. The correct movement
of the DNA into the twO new cells requires that the 46 separate chunks of DNA twist very tightly, forming
12 Unit [ Basic Concepts From Molecular Genetics
Two original
complementary
ds-DNA strands
before DNA
replication
New sets of ds-DNA, each retaining one

single strand from the original ds-DNA
Figure 1-9 The semiconservative model of DNA replication in which the two new sets of double-stranded (ds)
DNA each retain one of the original strands.
.'!':jllll~·,
Enzymes Participating in DNA Replication
Enzyme Action/Purpose
DNA helicase Unwinds the double helix and initially separates the dsDNA
DNA ligase Connects the individual pieces of newly synthesized DNA during
replication, forming a single strand within a chromosome.
DNA polymerase (subtypes DNA chain elongation; adds one nucleotide at time to the new strand
with different activities) while it is being synthesized
Editing/proofreading newly synthesized strand, comparing it to the original
template strand
Exonuclease action, recognizing a misplaced nucleotide, clipping it out.
and replacing it with the correct one
DNA topoisomerases Creates a "nick" in the supercoils of dsDNA, allowing them to loosen so
that eventually, the two strands can separate
Also repairs the nick (closes it) so that the DNA can resume its
supercoiled helical shape
Primase Responsible for initiating DNA synthesis in multiple sites down the single
strand being copied
Single-stranded DNA-binding Helps keep the two single strands separated long enough for initiation of
proteins (SSB proteins) DNA replication
dsDNA • double-strandedDNA
'---
dense chromosomes, which, when stained, can be seen (unlike their loosely coiled form) using a standard
microscope. Condensed chromosomes are temporary structures that have me important job of making me
delivery of DNA to me tWOnew cells precise so mat one new cell does not get more or less than the correct
amount of DNA and the correct distribution of the genes. This precision is critical for the new cells to be
able to function and eventually reproduce normally.
Chromosome Formation
Figure 1-10 shows me formation of one chromosome from its helical DNA after DNA replication has occurred.
This means mat the visible chromosome now contains twice me DNA and will split in half during mitosis,
allowing one new cell to receive the left half of me chromosome and me other new cell [Q receive the right
half. Wim each chromosome splitting in half during mitosis, each of me two new cells receives one complete
set of me entire human genome ar the completion of cell division.
Chromosome formation begins with me chunk of DNA (after replication) corresponding to me chromo-
some supercoiling on itself and becoming a shorter, much denser structure. This is similar to an old-fashioned
spiraled telephone cord mat is 12 feet long. Over rime, me long cord twists around itself until it is much
shorrer (perhaps only a foot long) and thicker, DNA supercoiling happens in multiple organized steps ramer
than just as a random tangle. As shown in part A of Figure 1-10, me dsDNA first starts [Q coil up more
tightly. Then, me tighter structure begins to wind around a set of globular protein balls known as histones,
forming a "bead" on me DNA strand (pan B of Fig. 1-10). This process allows the DNA to compact itself
without creating tangles or damaging its basic structure (base pairs are not broken or lost during this process).
Tightly supercoiled
DNA condensed
and packed into a
chromosome structure
Simple
double
helix,
loosely
coiled
Supercoiling with
tight compression
C
Figure 1-10 One drunk of loosely coiled double-stranded (ds) DNA supercoiling into a chromosome.
Individual DNA-wrapped histones continue to wind, which clusters them, forming larger "bead" groups (known
as a nucleosome) that are packed closely together (between part B and C of Fig. 1-10). These thicker beaded
groups continue to coil nearly into a solenoid (parr C of Fig. 1-10), which is a dense, compressed supercoil
and loop, forming the basic structure of the chromosome. In this way, millions of base pairs now occupy a
much smaller space in the cell. The densiry allows chromosomes to take up the stain.
As shown in Figure 1-10, a chromosome is a specific large chunk of dsDNA that has already under-
gone DNA replication and contains millions of bases and hundreds (sometimes thousands) of genes. During
M phase (metaphase of mitosis), each chromosome forms and moves to the center of the cell that is about to
divide. Just before the cell splits into two cells {cytokinesis}, each chromosome is pulled apart (nucleokinesis) so
that half of each duplicated chromosome goes into one new cell, and the other half goes into the other new
cell. This action is illustrated in Figure 1-11, showing JUSt2 chromosomes rather than 46.
Interphase Prophase
Centrioles Early mitotic Aster
(wHh centriole pairs) spindle
Plasma Nucleolus Nuclear Chromosome. Centromere

membrane envelope consisting 01 two
sister chromatids
Fragments
of nuclear
envelope
Completion of
the cell cycle Kinetochore JKinetOChore
microtubule
Metaphase
Telophase and Cytokinesis
Anaphase
Metaphase
plate Centrosome at
one spindle pole
Nuclear envelope
forming
Figure 1-11 Chromosome formation and nucleokinesis during the M phase of the cell cycle.
Chromosome Structure
Ploidy is the actual number of chromosomes present in a single-cell nucleus at mitosis. Humans have
46 chromosomes divided into 23 pairs. A complete set of one of each chromosome is the haploid chromo-
some number (1N) representing 23 individual chromosomes. When the nucleus contains both pairs of all
chromosomes, the number present is the diploid chromosome number (2N). When additional whole sets
of extra chromosomes are present, the condition is termed polyploidy (such as 69 chromosomes [triploidy
or 3N] and 92 chromosomes [terraploidy, 4N]). Normal human somatic cells (any body cells that are not
reproductive cells) with a nucleus have the diploid number (2N) of chromosomes, 23 pairs (46 chromosomes).
Mature human germline cells (reproductive cells, ova [eggs] and spermatocytes [sperrnj) each have the haploid
number of chromosomes (1 N), 23, half of each pair. Germline cells have the haploid number so that fertiliza-
tion (union of an ovum and spermatocyte) results only in the normal diploid number. When a cell's nucleus
contains the normal diploid number of chromosomes for the species, the cell is termed euploid. When a cell
contains more or fewer chromosomes than the normal diploid number for the species, it is termed aneuploid.
Figure 1-2 shows a chromosome after DNA replication right before cell division, and Figure 1-3 shows a
Giemsa-banded chromosome after the chromosome has been pulled apart. At the tips of this chromosome are
the telomeres (relomeric DNA), which act as chromosome caps that hold the DNA strands together similar to
the way a small plastic tube keeps the ends of a shoestring from unraveling. (The Structure and function of
relorneres is discussed in Chapter 3). As shown in Figures 1-2 and 1-3, the pinched-in area of the chromosome
connecting the twO sides is the centromere. The centromere also connects the chromosome segments above it
and below it. Each longitudinal left and right half of the chromosome is a chromatid. The two chromatids of
a chromosome are termed sister chromatids. The segmentS of chromosome extending above the centromere are
known as the short arms, or the p arms (p is for "petite"). The segments of chromosome below the centromere
are the long arms, or the q arms (because q is the next letter of the alphabet after pl. The locus of a gene on
a chromosome is pinpointed using these names (see Fig. 1-3). A discussion of terms used to identify a gene
locus is presented in Chapter 4.
Chromosomal Analysis
Limited genetic information can be determined by examining a person's chromosomes, a process known as
chromosomal analysis. This information is limited because each chromosome is composed of a large chunk of
DNA. Thus, only large changes with tens of thousands of base pairs of DNA can be seen at the chromosome
level as rearrangements, deletions, or additions. As shown in the nucleus in Figure 1-1, individual chromosomes
are scattered just before cell division. Photographs of these metaphase chromosomes can be taken through the
microscope to examine and analyze them closely.
The first step in chromosomal analysis is to count the chromosomes in one cell that is in M phase to
determine how many chromosomes are presenr (the normal cell should have 46 chromosomes consisting of
23 pairs). After the chromosome number per cell has been established, further analysis requires grouping the
chromosomes into a karyotype, which is an organized arrangemenr of all the chromosomes within one cell
during metaphase of mitosis. Although some of this analysis is commonly performed by a computer and then
interpreted by a geneticist, the following explanation demonstrates the actual steps of the process.
A technician first organizes the chromosomes into pairs and then arranges them by number according to
size and centromere position (Fig. 1-12). The largest chromosome pair is number 1, and this pair has the
centromere nearly in the middle of the chromosomes so that the p arms and q arms are close to the same
length. When the centromere is close to the center of the chromosome, it is termed a metacentric chromosome.
The next largest chromosome pair is the number 2 chromosomes. Their cenrromeres are not in the center, so
the p arms are clearly shorter than the q arms. This rype of centromere location is termed suhmetacentric. The
2 3 4 5
6 7 8 9 10 11 12
13 14 15 16 17 18
.. til
19 20 21 22
Sex chromosomes,/
Figure 1-12 A karyotype of G-banded (Giemsa-banded) metaphase chromosomes.
chromosome pairs continue to be arranged by size, from the number 1s to the number 22s. When chromo-
some pairs are nearly the same size, the one with the more metacentric centromere has a lower number than
rhe pair (or pairs) of the same size with a submeracenrric centromere, Some chromosomes have rhe centromere
ar the top of rhe q arms, and rhere is little or no p-arm material. These chromosomes are termed acrocentric.
In Figure 1-12, pairs 13, 14, and 15 and pairs 21 and 22 are acrocenrric chromosomes. Figure 1-13 shows
rhe general proportions of rneracentric, submetacenrric, and acrocentric chromosomes.
The sex chromosomes are positioned lasr in a karyotype even though the X is a medium-sized chromosome.
Of the 23 pairs of chromosomes, autosomes are the 22 pairs of human chromosomes (numbered 1 through
22) that do nor code for the sexual differemiacion of a person. These chromosomes contain the genes for most
of rhe srrucrures and regularory proreins needed for normal somaric function. The sex chromosomes (circled
on rhe karyorype in Fig. 1-12) are the pair that contains the genes for sexual differentiation along with some
additional genes that are needed for somatic funccions. Most commonly, males have an X and a Y as the sex
chromosomes, and females have cwo X chromosomes.
Short Satellite Stalk

arm p
Long
arm q
Telomere
Figure 1-13 Structures of metacentric, submetacen-
tric, and acrocentric chromosomes. Metacentrlc Submetacentrlc Acrocentric
The chromosomes in Figure 1-12 have been processed to enhance the accuracy of identifying each chro-
mosome. One way to increase the accuracy of chromosomal analysis is by treating the chromosomes with
special enzymes and stains so that each pair of chromosomes has a unique and consistent striped pattern. The
most common way to enhance chromosome appearance
is through the G-banding (Giemsa-banding) process. So, What Can Be Learned About the Person
Notice how different the banding patterns are for pairs From Whom the Karyotype in Figure 1-12 Was
4 and 5, which are the same size and shape, and for the Made?
acrocentric, same-sized pairs of 13, 14, and 15. With The person is human, male, and euploid (diploid,
this G-banding-enhanced karyotype, it is possible for 2N), having chromosomes that are normal in number
a genetics technician to accurately distinguish a pair of and appear normal in structure. lMlat this karyotype
does not indicate is whether any genes are mutated
number 13 chromosomes from a pair of number 14
or nonfunctional.
chromosomes.
Single-Gene Traits
As described earlier, a gene is a specific segmenr of DNA that contains the code (recipe) to direct the synthesis
of a particular protein. Thus, a gene is the smallest functional unit of the DNA Although genes vary in size,
even a large individual gene containing a million bases is only a very small segment of DNA.
Most of what is known currently about specific genes is related to those genes in which one gene controls
the expression of a specific structure, protein, or function. These conditions are known as single-gene traits
(monogenic traits). For example, a single gene determines whether a person can synthesize normal beta chains
of hemoglobin or has some degree of sickle cell disease. Another single gene determines whether a person
has a "widow's peak" or a straight hairline. Expression of blood type also is a single-gene trait. Table 1-3 lisrs
some single-gene traits and common health problems related to changes in single genes.
The blood type gene is located on chromosome 9 (locus 9q34). An individual has two copies of this single
gene, with one copy on the number 9 chromosome inherited from the father and the other copy on the
number 9 chromosome inherited from the mother. These two copies of the single gene for blood eype are
known as gene alleles. An allele is an alternative form or variation of a gene at a specific location. For each
single gene at a specific chromosome location, tWO alleles together control how that gene is expressed. Humans
have three possible gene alleles for blood type: A, B, and O. However, each person has only two of the three
.r!1:1.=UClC1
Examples of Common Single-Gene Traits

and Disorders
Normal Traits Disorders
A. B, 0 blood groups Achondroplasia

Blood clotting factors Cystic fibrosis
(individual) Hemophilia (classic)
Color vision (red/green) Hereditary hemochromatosis
Dimples (facial) Huntington disease
Earlobe position Hurler syndrome
Hair texture Marian syndrome
Male pattern baldness Muscular dystrophy
Rh blood groups Phenylketonuria
Taste discrimination Sickle cell disease
Tongue rolling Sickle cell trait
Widow's peak Syndactyly
Tay-Sachs disease
specific gene alleles for blood cype (unless me person has trisomy 9 with three number 9 chromosomes, an
abnormal condition). Some single-gene traits have even more man three possible alleles; however, regardless
of how many possible different alleles are present in the entire human population, each person has only two
because he or she has only two chromosomes per pair, with one allele on each chromosome. A person's blood
type is determined by which blood type gene alleles were inherited from his or her parents.
Dominant and Recessive Single-Gene Traits

When a person inherits a blood cype A allele from one parent and a cype B allele from me other parent, he or
she has me A and B alleles and expresses blood cype AB. Anomer factor that determines which blood cype is
expressed with different alleles is whether me allele is dominant or recessive. The A and B blood type alleles
are dominant. A dominant gene allele is always expressed when it is present, which is why an individual who
has an A blood cype gene allele and a B blood type gene allele expresses both alleles as cype AB blood. A
person who has two blood type A gene alleles has type A blood, and a person who has two blood type B gene
alleles has cype B blood. A dominant trait is expressed even when the tWOgene alleles for that trait are dif-
ferent. When two alleles are different and each is dominant, they are both expressed equally as a codominant
trait. The alleles for type 0 blood are recessive and are expressed only when both 0 alleles are present. For
a person who has one blood cype B gene allele and one blood cype 0 gene allele, the expressed blood cype is
B, not OB. A recessive trait is a single-gene trait that is expressed only when both gene alleles are the same.
When a recessive gene allele is paired with a dominant allele, the recessive allele is silent (not expressed), and
only the dominant allele is expressed.
Genotype and Phenotype

The exact gene allele composition a person has for a specific single-gene trait is the person's genotype for that
trait. The phenotype of a trait is the person's observed expression of any given single-gene trait. Thus, a person
with the genotype of AO for blood type and a person with the genotype of AA for blood type both express
the phenotype of type A blood, even though their genotypes are different. When a person has twO identical
gene alleles for a single-gene trait, the alleles are termed homoz.ygous. When homozygous gene alleles are
present for a single-gene trait, the genotype and phenotype for that trait are the same. When a person has
two different gene alleles for a single-gene trait, the alleles are termed heterozygous. For heterozygous alleles,
the actual genotype may be different from the phenotype.
Normally, recessive single-gene traits are expressed only when the person is homozygous for the two gene
alleles. Thus, for recessive traits, phenotype and genotype are always the same. Dominant single-gene traits
are expressed whether the person is homozygous or heterozygous for the gene alleles. For dominant traits,
phenotype and genotype can be the same but do not have to be. Information about dominant, recessive,
and codominant expression of single-gene traits and problems is presented in the discussion of patterns of
inheritance in Chapter 4.
GENE GEMS
• Genetics and genomics are similar concepts, but genomics has a broader scope.
• All human nucleated somatic cells contain two sets of the human genome.
• Germ cells are the cells for sexual reproduction (sperrnarocyres and ova) and contain only one set of
the human genome.
• Larger chromosomes contain thousands of genes, and smaller chromosomes may have fewer than
100 genes.
• More than 99% of human DNA is in the nucleus, and a small amount is in the mitochondria.
• Thymine and cytosine are pyrimidines; adenine and guanine are purines.
• Adenine and thymine are complementary to each other and always pair together; cyrosine and guanine
are complementary and always pair together.
• When the base sequence of one strand of dsDNA is known, the opposite (complementary) strand's
sequence can be predicted accurately.
• When mitosis is normal and the parent cell divides correctly, each of the two new cells has the correct
amount of DNA and genes, identical to each other and to the parent cell.
• The complete genome within anyone cell is present as 46 separate sets of dsDNA, not as one very
long double strand of DNA.
• The semiconservacive model of DNA replication results in twO complete sets of dsDNA, with each set
containing one DNA strand from the parent cell and one newly synthesized strand.
• The initiation of DNA synthesis begins at multiple spotS simultaneously on the parem strands of dsDNA
to make the process rapid and efficiem.
• Bases can only be added to the 3' end of DNA strands.
Continued
• The most important feature of mitosis is the delivery of the correct amount of DNA to each of the
twO newly created cells.
• Chromosomes can be seen only with a standard light microscope during metaphase of mitosis.
• In a karyotype, one cell's metaphase chromosome pairs are organized by size from largest to smallest
and by the position of the centromere.
• Chromosomal analysis is enhanced by techniques that "band" chromosome pairs with a unique striped
pattern.
• For each single gene at a specific chromosome location, two alleles together control how that gene is
expressed.
• Some single-gene traits have even more than three possible alleles; however, regardless of how many
possible different alleles are present in the entire human population, each person only has twO because
he or she has only two chromosomes per pair, with one allele on each chromosome.
• When homozygous gene alleles are present for a single-gene trait, the genotype and phenotype for that
trait are the same.
• For recessive traits, the genotype and the phenotype are the same.
• For dominant traits, the genotype and the phenotype can be the same but do not have to be.
Self-Assessment Questions. ~
..
1. Which statement regarding DNA structure is true?
a. The same four bases compose the DNA of all living things.
b. All DNA contains genes, but not all genes contain DNA.
c. Noncoding regions of DNA make up a relatively small portion of total cellular DNA.
d. In addition to the nucleus, the only other cell organelle that contains DNA is the microtubule.
2. How does the enzyme DNA Ligasecontribute to DNA replication?
a. It unwinds the double helix and separates the double-stranded DNA.
b. It creates a "nick" in the DNA supercoils, allowing them to straighten before replication.
c. It initiates DNA synthesis in multiple sites down the strand, making the process more efficient.
d. It connects the individual pieces of newly synthesized DNA [Q form a single strand.
3. What activity occurs during S phase of the cell cycle?
a. The cell undergoes cytokinesis.
b. Activity StopS, and the cell "sleeps."
c. All DNA is completely replicated.
d. Chromosomes separate, causing nucleokinesis.
4. Which substance is responsible for holding nucleorides in place in single-stranded DNA?
a. Hydrogen bonds
b. Phosphate groups
c. Purines and pyrimidines
d. Deoxyribose sugars
Continued
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DANCE ON STILTS AT THE GIRLS’ UNYAGO, NIUCHI
Newala, too, suffers from the distance of its water-supply—at least

the Newala of to-day does; there was once another Newala in a lovely
valley at the foot of the plateau. I visited it and found scarcely a trace
of houses, only a Christian cemetery, with the graves of several
missionaries and their converts, remaining as a monument of its
former glories. But the surroundings are wonderfully beautiful. A
thick grove of splendid mango-trees closes in the weather-worn
crosses and headstones; behind them, combining the useful and the
agreeable, is a whole plantation of lemon-trees covered with ripe
fruit; not the small African kind, but a much larger and also juicier
imported variety, which drops into the hands of the passing traveller,
without calling for any exertion on his part. Old Newala is now under
the jurisdiction of the native pastor, Daudi, at Chingulungulu, who,
as I am on very friendly terms with him, allows me, as a matter of
course, the use of this lemon-grove during my stay at Newala.
FEET MUTILATED BY THE RAVAGES OF THE “JIGGER”
(Sarcopsylla penetrans)
The water-supply of New Newala is in the bottom of the valley,

some 1,600 feet lower down. The way is not only long and fatiguing,
but the water, when we get it, is thoroughly bad. We are suffering not
only from this, but from the fact that the arrangements at Newala are
nothing short of luxurious. We have a separate kitchen—a hut built
against the boma palisade on the right of the baraza, the interior of
which is not visible from our usual position. Our two cooks were not
long in finding this out, and they consequently do—or rather neglect
to do—what they please. In any case they do not seem to be very
particular about the boiling of our drinking-water—at least I can
attribute to no other cause certain attacks of a dysenteric nature,
from which both Knudsen and I have suffered for some time. If a
man like Omari has to be left unwatched for a moment, he is capable
of anything. Besides this complaint, we are inconvenienced by the
state of our nails, which have become as hard as glass, and crack on
the slightest provocation, and I have the additional infliction of
pimples all over me. As if all this were not enough, we have also, for
the last week been waging war against the jigger, who has found his
Eldorado in the hot sand of the Makonde plateau. Our men are seen
all day long—whenever their chronic colds and the dysentery likewise
raging among them permit—occupied in removing this scourge of
Africa from their feet and trying to prevent the disastrous
consequences of its presence. It is quite common to see natives of
this place with one or two toes missing; many have lost all their toes,
or even the whole front part of the foot, so that a well-formed leg
ends in a shapeless stump. These ravages are caused by the female of
Sarcopsylla penetrans, which bores its way under the skin and there
develops an egg-sac the size of a pea. In all books on the subject, it is
stated that one’s attention is called to the presence of this parasite by
an intolerable itching. This agrees very well with my experience, so
far as the softer parts of the sole, the spaces between and under the
toes, and the side of the foot are concerned, but if the creature
penetrates through the harder parts of the heel or ball of the foot, it
may escape even the most careful search till it has reached maturity.
Then there is no time to be lost, if the horrible ulceration, of which
we see cases by the dozen every day, is to be prevented. It is much
easier, by the way, to discover the insect on the white skin of a
European than on that of a native, on which the dark speck scarcely
shows. The four or five jiggers which, in spite of the fact that I
constantly wore high laced boots, chose my feet to settle in, were
taken out for me by the all-accomplished Knudsen, after which I
thought it advisable to wash out the cavities with corrosive
sublimate. The natives have a different sort of disinfectant—they fill
the hole with scraped roots. In a tiny Makua village on the slope of
the plateau south of Newala, we saw an old woman who had filled all
the spaces under her toe-nails with powdered roots by way of
prophylactic treatment. What will be the result, if any, who can say?
The rest of the many trifling ills which trouble our existence are
really more comic than serious. In the absence of anything else to
smoke, Knudsen and I at last opened a box of cigars procured from
the Indian store-keeper at Lindi, and tried them, with the most
distressing results. Whether they contain opium or some other
narcotic, neither of us can say, but after the tenth puff we were both
“off,” three-quarters stupefied and unspeakably wretched. Slowly we
recovered—and what happened next? Half-an-hour later we were
once more smoking these poisonous concoctions—so insatiable is the
craving for tobacco in the tropics.
Even my present attacks of fever scarcely deserve to be taken
seriously. I have had no less than three here at Newala, all of which
have run their course in an incredibly short time. In the early
afternoon, I am busy with my old natives, asking questions and
making notes. The strong midday coffee has stimulated my spirits to
an extraordinary degree, the brain is active and vigorous, and work
progresses rapidly, while a pleasant warmth pervades the whole
body. Suddenly this gives place to a violent chill, forcing me to put on
my overcoat, though it is only half-past three and the afternoon sun
is at its hottest. Now the brain no longer works with such acuteness
and logical precision; more especially does it fail me in trying to
establish the syntax of the difficult Makua language on which I have
ventured, as if I had not enough to do without it. Under the
circumstances it seems advisable to take my temperature, and I do
so, to save trouble, without leaving my seat, and while going on with
my work. On examination, I find it to be 101·48°. My tutors are
abruptly dismissed and my bed set up in the baraza; a few minutes
later I am in it and treating myself internally with hot water and
lemon-juice.
Three hours later, the thermometer marks nearly 104°, and I make
them carry me back into the tent, bed and all, as I am now perspiring
heavily, and exposure to the cold wind just beginning to blow might
mean a fatal chill. I lie still for a little while, and then find, to my
great relief, that the temperature is not rising, but rather falling. This
is about 7.30 p.m. At 8 p.m. I find, to my unbounded astonishment,
that it has fallen below 98·6°, and I feel perfectly well. I read for an
hour or two, and could very well enjoy a smoke, if I had the
wherewithal—Indian cigars being out of the question.
Having no medical training, I am at a loss to account for this state
of things. It is impossible that these transitory attacks of high fever
should be malarial; it seems more probable that they are due to a
kind of sunstroke. On consulting my note-book, I become more and
more inclined to think this is the case, for these attacks regularly
follow extreme fatigue and long exposure to strong sunshine. They at
least have the advantage of being only short interruptions to my
work, as on the following morning I am always quite fresh and fit.
My treasure of a cook is suffering from an enormous hydrocele which
makes it difficult for him to get up, and Moritz is obliged to keep in
the dark on account of his inflamed eyes. Knudsen’s cook, a raw boy
from somewhere in the bush, knows still less of cooking than Omari;
consequently Nils Knudsen himself has been promoted to the vacant
post. Finding that we had come to the end of our supplies, he began
by sending to Chingulungulu for the four sucking-pigs which we had
bought from Matola and temporarily left in his charge; and when
they came up, neatly packed in a large crate, he callously slaughtered
the biggest of them. The first joint we were thoughtless enough to
entrust for roasting to Knudsen’s mshenzi cook, and it was
consequently uneatable; but we made the rest of the animal into a
jelly which we ate with great relish after weeks of underfeeding,
consuming incredible helpings of it at both midday and evening
meals. The only drawback is a certain want of variety in the tinned
vegetables. Dr. Jäger, to whom the Geographical Commission
entrusted the provisioning of the expeditions—mine as well as his
own—because he had more time on his hands than the rest of us,
seems to have laid in a huge stock of Teltow turnips,[46] an article of
food which is all very well for occasional use, but which quickly palls
when set before one every day; and we seem to have no other tins
left. There is no help for it—we must put up with the turnips; but I
am certain that, once I am home again, I shall not touch them for ten
years to come.
Amid all these minor evils, which, after all, go to make up the
genuine flavour of Africa, there is at least one cheering touch:
Knudsen has, with the dexterity of a skilled mechanic, repaired my 9
× 12 cm. camera, at least so far that I can use it with a little care.
How, in the absence of finger-nails, he was able to accomplish such a
ticklish piece of work, having no tool but a clumsy screw-driver for
taking to pieces and putting together again the complicated
mechanism of the instantaneous shutter, is still a mystery to me; but
he did it successfully. The loss of his finger-nails shows him in a light
contrasting curiously enough with the intelligence evinced by the
above operation; though, after all, it is scarcely surprising after his
ten years’ residence in the bush. One day, at Lindi, he had occasion
to wash a dog, which must have been in need of very thorough
cleansing, for the bottle handed to our friend for the purpose had an
extremely strong smell. Having performed his task in the most
conscientious manner, he perceived with some surprise that the dog
did not appear much the better for it, and was further surprised by
finding his own nails ulcerating away in the course of the next few
days. “How was I to know that carbolic acid has to be diluted?” he
mutters indignantly, from time to time, with a troubled gaze at his
mutilated finger-tips.
Since we came to Newala we have been making excursions in all
directions through the surrounding country, in accordance with old
habit, and also because the akida Sefu did not get together the tribal
elders from whom I wanted information so speedily as he had
promised. There is, however, no harm done, as, even if seen only
from the outside, the country and people are interesting enough.
The Makonde plateau is like a large rectangular table rounded off
at the corners. Measured from the Indian Ocean to Newala, it is
about seventy-five miles long, and between the Rovuma and the
Lukuledi it averages fifty miles in breadth, so that its superficial area
is about two-thirds of that of the kingdom of Saxony. The surface,
however, is not level, but uniformly inclined from its south-western
edge to the ocean. From the upper edge, on which Newala lies, the
eye ranges for many miles east and north-east, without encountering
any obstacle, over the Makonde bush. It is a green sea, from which
here and there thick clouds of smoke rise, to show that it, too, is
inhabited by men who carry on their tillage like so many other
primitive peoples, by cutting down and burning the bush, and
manuring with the ashes. Even in the radiant light of a tropical day
such a fire is a grand sight.
Much less effective is the impression produced just now by the
great western plain as seen from the edge of the plateau. As often as
time permits, I stroll along this edge, sometimes in one direction,
sometimes in another, in the hope of finding the air clear enough to
let me enjoy the view; but I have always been disappointed.
Wherever one looks, clouds of smoke rise from the burning bush,
and the air is full of smoke and vapour. It is a pity, for under more
favourable circumstances the panorama of the whole country up to
the distant Majeje hills must be truly magnificent. It is of little use
taking photographs now, and an outline sketch gives a very poor idea
of the scenery. In one of these excursions I went out of my way to
make a personal attempt on the Makonde bush. The present edge of
the plateau is the result of a far-reaching process of destruction
through erosion and denudation. The Makonde strata are
everywhere cut into by ravines, which, though short, are hundreds of
yards in depth. In consequence of the loose stratification of these
beds, not only are the walls of these ravines nearly vertical, but their
upper end is closed by an equally steep escarpment, so that the
western edge of the Makonde plateau is hemmed in by a series of
deep, basin-like valleys. In order to get from one side of such a ravine
to the other, I cut my way through the bush with a dozen of my men.
It was a very open part, with more grass than scrub, but even so the
short stretch of less than two hundred yards was very hard work; at
the end of it the men’s calicoes were in rags and they themselves
bleeding from hundreds of scratches, while even our strong khaki
suits had not escaped scatheless.
NATIVE PATH THROUGH THE MAKONDE BUSH, NEAR

MAHUTA
I see increasing reason to believe that the view formed some time
back as to the origin of the Makonde bush is the correct one. I have
no doubt that it is not a natural product, but the result of human
occupation. Those parts of the high country where man—as a very
slight amount of practice enables the eye to perceive at once—has not
yet penetrated with axe and hoe, are still occupied by a splendid
timber forest quite able to sustain a comparison with our mixed
forests in Germany. But wherever man has once built his hut or tilled
his field, this horrible bush springs up. Every phase of this process
may be seen in the course of a couple of hours’ walk along the main
road. From the bush to right or left, one hears the sound of the axe—
not from one spot only, but from several directions at once. A few
steps further on, we can see what is taking place. The brush has been
cut down and piled up in heaps to the height of a yard or more,
between which the trunks of the large trees stand up like the last
pillars of a magnificent ruined building. These, too, present a
melancholy spectacle: the destructive Makonde have ringed them—
cut a broad strip of bark all round to ensure their dying off—and also
piled up pyramids of brush round them. Father and son, mother and
son-in-law, are chopping away perseveringly in the background—too
busy, almost, to look round at the white stranger, who usually excites
so much interest. If you pass by the same place a week later, the piles
of brushwood have disappeared and a thick layer of ashes has taken
the place of the green forest. The large trees stretch their
smouldering trunks and branches in dumb accusation to heaven—if
they have not already fallen and been more or less reduced to ashes,
perhaps only showing as a white stripe on the dark ground.
This work of destruction is carried out by the Makonde alike on the
virgin forest and on the bush which has sprung up on sites already
cultivated and deserted. In the second case they are saved the trouble
of burning the large trees, these being entirely absent in the
secondary bush.
After burning this piece of forest ground and loosening it with the
hoe, the native sows his corn and plants his vegetables. All over the
country, he goes in for bed-culture, which requires, and, in fact,
receives, the most careful attention. Weeds are nowhere tolerated in
the south of German East Africa. The crops may fail on the plains,
where droughts are frequent, but never on the plateau with its
abundant rains and heavy dews. Its fortunate inhabitants even have
the satisfaction of seeing the proud Wayao and Wamakua working
for them as labourers, driven by hunger to serve where they were
accustomed to rule.
But the light, sandy soil is soon exhausted, and would yield no
harvest the second year if cultivated twice running. This fact has
been familiar to the native for ages; consequently he provides in
time, and, while his crop is growing, prepares the next plot with axe
and firebrand. Next year he plants this with his various crops and
lets the first piece lie fallow. For a short time it remains waste and
desolate; then nature steps in to repair the destruction wrought by
man; a thousand new growths spring out of the exhausted soil, and
even the old stumps put forth fresh shoots. Next year the new growth
is up to one’s knees, and in a few years more it is that terrible,
impenetrable bush, which maintains its position till the black
occupier of the land has made the round of all the available sites and
come back to his starting point.
The Makonde are, body and soul, so to speak, one with this bush.
According to my Yao informants, indeed, their name means nothing
else but “bush people.” Their own tradition says that they have been
settled up here for a very long time, but to my surprise they laid great
stress on an original immigration. Their old homes were in the
south-east, near Mikindani and the mouth of the Rovuma, whence
their peaceful forefathers were driven by the continual raids of the
Sakalavas from Madagascar and the warlike Shirazis[47] of the coast,
to take refuge on the almost inaccessible plateau. I have studied
African ethnology for twenty years, but the fact that changes of
population in this apparently quiet and peaceable corner of the earth
could have been occasioned by outside enterprises taking place on
the high seas, was completely new to me. It is, no doubt, however,
correct.
The charming tribal legend of the Makonde—besides informing us
of other interesting matters—explains why they have to live in the
thickest of the bush and a long way from the edge of the plateau,
instead of making their permanent homes beside the purling brooks
and springs of the low country.
“The place where the tribe originated is Mahuta, on the southern
side of the plateau towards the Rovuma, where of old time there was
nothing but thick bush. Out of this bush came a man who never
washed himself or shaved his head, and who ate and drank but little.
He went out and made a human figure from the wood of a tree
growing in the open country, which he took home to his abode in the
bush and there set it upright. In the night this image came to life and
was a woman. The man and woman went down together to the
Rovuma to wash themselves. Here the woman gave birth to a still-
born child. They left that place and passed over the high land into the
valley of the Mbemkuru, where the woman had another child, which
was also born dead. Then they returned to the high bush country of
Mahuta, where the third child was born, which lived and grew up. In
course of time, the couple had many more children, and called
themselves Wamatanda. These were the ancestral stock of the
Makonde, also called Wamakonde,[48] i.e., aborigines. Their
forefather, the man from the bush, gave his children the command to
bury their dead upright, in memory of the mother of their race who
was cut out of wood and awoke to life when standing upright. He also
warned them against settling in the valleys and near large streams,
for sickness and death dwelt there. They were to make it a rule to
have their huts at least an hour’s walk from the nearest watering-
place; then their children would thrive and escape illness.”
The explanation of the name Makonde given by my informants is
somewhat different from that contained in the above legend, which I
extract from a little book (small, but packed with information), by
Pater Adams, entitled Lindi und sein Hinterland. Otherwise, my
results agree exactly with the statements of the legend. Washing?
Hapana—there is no such thing. Why should they do so? As it is, the
supply of water scarcely suffices for cooking and drinking; other
people do not wash, so why should the Makonde distinguish himself
by such needless eccentricity? As for shaving the head, the short,
woolly crop scarcely needs it,[49] so the second ancestral precept is
likewise easy enough to follow. Beyond this, however, there is
nothing ridiculous in the ancestor’s advice. I have obtained from
various local artists a fairly large number of figures carved in wood,
ranging from fifteen to twenty-three inches in height, and
representing women belonging to the great group of the Mavia,
Makonde, and Matambwe tribes. The carving is remarkably well
done and renders the female type with great accuracy, especially the
keloid ornamentation, to be described later on. As to the object and
meaning of their works the sculptors either could or (more probably)
would tell me nothing, and I was forced to content myself with the
scanty information vouchsafed by one man, who said that the figures
were merely intended to represent the nembo—the artificial
deformations of pelele, ear-discs, and keloids. The legend recorded
by Pater Adams places these figures in a new light. They must surely
be more than mere dolls; and we may even venture to assume that
they are—though the majority of present-day Makonde are probably
unaware of the fact—representations of the tribal ancestress.
The references in the legend to the descent from Mahuta to the
Rovuma, and to a journey across the highlands into the Mbekuru
valley, undoubtedly indicate the previous history of the tribe, the
travels of the ancestral pair typifying the migrations of their
descendants. The descent to the neighbouring Rovuma valley, with
its extraordinary fertility and great abundance of game, is intelligible
at a glance—but the crossing of the Lukuledi depression, the ascent
to the Rondo Plateau and the descent to the Mbemkuru, also lie
within the bounds of probability, for all these districts have exactly
the same character as the extreme south. Now, however, comes a
point of especial interest for our bacteriological age. The primitive
Makonde did not enjoy their lives in the marshy river-valleys.
Disease raged among them, and many died. It was only after they
had returned to their original home near Mahuta, that the health
conditions of these people improved. We are very apt to think of the
African as a stupid person whose ignorance of nature is only equalled
by his fear of it, and who looks on all mishaps as caused by evil
spirits and malignant natural powers. It is much more correct to
assume in this case that the people very early learnt to distinguish
districts infested with malaria from those where it is absent.
This knowledge is crystallized in the
ancestral warning against settling in the
valleys and near the great waters, the
dwelling-places of disease and death. At the
same time, for security against the hostile
Mavia south of the Rovuma, it was enacted
that every settlement must be not less than a
certain distance from the southern edge of the
plateau. Such in fact is their mode of life at the
present day. It is not such a bad one, and
certainly they are both safer and more
comfortable than the Makua, the recent
intruders from the south, who have made USUAL METHOD OF
good their footing on the western edge of the CLOSING HUT-DOOR
plateau, extending over a fairly wide belt of
country. Neither Makua nor Makonde show in their dwellings
anything of the size and comeliness of the Yao houses in the plain,
especially at Masasi, Chingulungulu and Zuza’s. Jumbe Chauro, a
Makonde hamlet not far from Newala, on the road to Mahuta, is the
most important settlement of the tribe I have yet seen, and has fairly
spacious huts. But how slovenly is their construction compared with
the palatial residences of the elephant-hunters living in the plain.
The roofs are still more untidy than in the general run of huts during
the dry season, the walls show here and there the scanty beginnings
or the lamentable remains of the mud plastering, and the interior is a
veritable dog-kennel; dirt, dust and disorder everywhere. A few huts
only show any attempt at division into rooms, and this consists
merely of very roughly-made bamboo partitions. In one point alone
have I noticed any indication of progress—in the method of fastening
the door. Houses all over the south are secured in a simple but
ingenious manner. The door consists of a set of stout pieces of wood
or bamboo, tied with bark-string to two cross-pieces, and moving in
two grooves round one of the door-posts, so as to open inwards. If
the owner wishes to leave home, he takes two logs as thick as a man’s
upper arm and about a yard long. One of these is placed obliquely
against the middle of the door from the inside, so as to form an angle
of from 60° to 75° with the ground. He then places the second piece
horizontally across the first, pressing it downward with all his might.
It is kept in place by two strong posts planted in the ground a few
inches inside the door. This fastening is absolutely safe, but of course
cannot be applied to both doors at once, otherwise how could the
owner leave or enter his house? I have not yet succeeded in finding
out how the back door is fastened.
MAKONDE LOCK AND KEY AT JUMBE CHAURO

This is the general way of closing a house. The Makonde at Jumbe
Chauro, however, have a much more complicated, solid and original
one. Here, too, the door is as already described, except that there is
only one post on the inside, standing by itself about six inches from
one side of the doorway. Opposite this post is a hole in the wall just
large enough to admit a man’s arm. The door is closed inside by a
large wooden bolt passing through a hole in this post and pressing
with its free end against the door. The other end has three holes into
which fit three pegs running in vertical grooves inside the post. The
door is opened with a wooden key about a foot long, somewhat
curved and sloped off at the butt; the other end has three pegs
corresponding to the holes, in the bolt, so that, when it is thrust
through the hole in the wall and inserted into the rectangular
opening in the post, the pegs can be lifted and the bolt drawn out.[50]
MODE OF INSERTING THE KEY
With no small pride first one householder and then a second

showed me on the spot the action of this greatest invention of the
Makonde Highlands. To both with an admiring exclamation of
“Vizuri sana!” (“Very fine!”). I expressed the wish to take back these
marvels with me to Ulaya, to show the Wazungu what clever fellows
the Makonde are. Scarcely five minutes after my return to camp at
Newala, the two men came up sweating under the weight of two
heavy logs which they laid down at my feet, handing over at the same
time the keys of the fallen fortress. Arguing, logically enough, that if
the key was wanted, the lock would be wanted with it, they had taken
their axes and chopped down the posts—as it never occurred to them
to dig them out of the ground and so bring them intact. Thus I have
two badly damaged specimens, and the owners, instead of praise,
come in for a blowing-up.
The Makua huts in the environs of Newala are especially
miserable; their more than slovenly construction reminds one of the
temporary erections of the Makua at Hatia’s, though the people here
have not been concerned in a war. It must therefore be due to
congenital idleness, or else to the absence of a powerful chief. Even
the baraza at Mlipa’s, a short hour’s walk south-east of Newala,
shares in this general neglect. While public buildings in this country
are usually looked after more or less carefully, this is in evident
danger of being blown over by the first strong easterly gale. The only
attractive object in this whole district is the grave of the late chief
Mlipa. I visited it in the morning, while the sun was still trying with
partial success to break through the rolling mists, and the circular
grove of tall euphorbias, which, with a broken pot, is all that marks
the old king’s resting-place, impressed one with a touch of pathos.
Even my very materially-minded carriers seemed to feel something
of the sort, for instead of their usual ribald songs, they chanted
solemnly, as we marched on through the dense green of the Makonde
bush:—
“We shall arrive with the great master; we stand in a row and have
no fear about getting our food and our money from the Serkali (the
Government). We are not afraid; we are going along with the great
master, the lion; we are going down to the coast and back.”
With regard to the characteristic features of the various tribes here
on the western edge of the plateau, I can arrive at no other
conclusion than the one already come to in the plain, viz., that it is
impossible for anyone but a trained anthropologist to assign any
given individual at once to his proper tribe. In fact, I think that even
an anthropological specialist, after the most careful examination,
might find it a difficult task to decide. The whole congeries of peoples
collected in the region bounded on the west by the great Central
African rift, Tanganyika and Nyasa, and on the east by the Indian
Ocean, are closely related to each other—some of their languages are
only distinguished from one another as dialects of the same speech,
and no doubt all the tribes present the same shape of skull and
structure of skeleton. Thus, surely, there can be no very striking
differences in outward appearance.
Even did such exist, I should have no time
to concern myself with them, for day after day,
I have to see or hear, as the case may be—in
any case to grasp and record—an
extraordinary number of ethnographic
phenomena. I am almost disposed to think it
fortunate that some departments of inquiry, at
least, are barred by external circumstances.
Chief among these is the subject of iron-
working. We are apt to think of Africa as a
country where iron ore is everywhere, so to
speak, to be picked up by the roadside, and
where it would be quite surprising if the
inhabitants had not learnt to smelt the
material ready to their hand. In fact, the
knowledge of this art ranges all over the
continent, from the Kabyles in the north to the
Kafirs in the south. Here between the Rovuma
and the Lukuledi the conditions are not so
favourable. According to the statements of the
Makonde, neither ironstone nor any other
form of iron ore is known to them. They have
not therefore advanced to the art of smelting
the metal, but have hitherto bought all their
THE ANCESTRESS OF
THE MAKONDE
iron implements from neighbouring tribes.
Even in the plain the inhabitants are not much
better off. Only one man now living is said to
understand the art of smelting iron. This old fundi lives close to
Huwe, that isolated, steep-sided block of granite which rises out of
the green solitude between Masasi and Chingulungulu, and whose
jagged and splintered top meets the traveller’s eye everywhere. While
still at Masasi I wished to see this man at work, but was told that,
frightened by the rising, he had retired across the Rovuma, though
he would soon return. All subsequent inquiries as to whether the
fundi had come back met with the genuine African answer, “Bado”
(“Not yet”).
BRAZIER
Some consolation was afforded me by a brassfounder, whom I

came across in the bush near Akundonde’s. This man is the favourite
of women, and therefore no doubt of the gods; he welds the glittering
brass rods purchased at the coast into those massive, heavy rings
which, on the wrists and ankles of the local fair ones, continually give
me fresh food for admiration. Like every decent master-craftsman he
had all his tools with him, consisting of a pair of bellows, three
crucibles and a hammer—nothing more, apparently. He was quite
willing to show his skill, and in a twinkling had fixed his bellows on
the ground. They are simply two goat-skins, taken off whole, the four
legs being closed by knots, while the upper opening, intended to
admit the air, is kept stretched by two pieces of wood. At the lower
end of the skin a smaller opening is left into which a wooden tube is
stuck. The fundi has quickly borrowed a heap of wood-embers from
the nearest hut; he then fixes the free ends of the two tubes into an
earthen pipe, and clamps them to the ground by means of a bent
piece of wood. Now he fills one of his small clay crucibles, the dross
on which shows that they have been long in use, with the yellow
material, places it in the midst of the embers, which, at present are
only faintly glimmering, and begins his work. In quick alternation
the smith’s two hands move up and down with the open ends of the
bellows; as he raises his hand he holds the slit wide open, so as to let
the air enter the skin bag unhindered. In pressing it down he closes
the bag, and the air puffs through the bamboo tube and clay pipe into
the fire, which quickly burns up. The smith, however, does not keep
on with this work, but beckons to another man, who relieves him at
the bellows, while he takes some more tools out of a large skin pouch
carried on his back. I look on in wonder as, with a smooth round
stick about the thickness of a finger, he bores a few vertical holes into
the clean sand of the soil. This should not be difficult, yet the man
seems to be taking great pains over it. Then he fastens down to the
ground, with a couple of wooden clamps, a neat little trough made by
splitting a joint of bamboo in half, so that the ends are closed by the
two knots. At last the yellow metal has attained the right consistency,
and the fundi lifts the crucible from the fire by means of two sticks
split at the end to serve as tongs. A short swift turn to the left—a
tilting of the crucible—and the molten brass, hissing and giving forth
clouds of smoke, flows first into the bamboo mould and then into the
holes in the ground.
The technique of this backwoods craftsman may not be very far
advanced, but it cannot be denied that he knows how to obtain an
adequate result by the simplest means. The ladies of highest rank in
this country—that is to say, those who can afford it, wear two kinds
of these massive brass rings, one cylindrical, the other semicircular
in section. The latter are cast in the most ingenious way in the
bamboo mould, the former in the circular hole in the sand. It is quite
a simple matter for the fundi to fit these bars to the limbs of his fair
customers; with a few light strokes of his hammer he bends the
pliable brass round arm or ankle without further inconvenience to
the wearer.
SHAPING THE POT
SMOOTHING WITH MAIZE-COB
CUTTING THE EDGE

FINISHING THE BOTTOM
LAST SMOOTHING BEFORE

BURNING
FIRING THE BRUSH-PILE

LIGHTING THE FARTHER SIDE OF
THE PILE
TURNING THE RED-HOT VESSEL
NYASA WOMAN MAKING POTS AT MASASI

Pottery is an art which must always and everywhere excite the
interest of the student, just because it is so intimately connected with
the development of human culture, and because its relics are one of
the principal factors in the reconstruction of our own condition in
prehistoric times. I shall always remember with pleasure the two or
three afternoons at Masasi when Salim Matola’s mother, a slightly-
built, graceful, pleasant-looking woman, explained to me with
touching patience, by means of concrete illustrations, the ceramic art
of her people. The only implements for this primitive process were a
lump of clay in her left hand, and in the right a calabash containing
the following valuables: the fragment of a maize-cob stripped of all
its grains, a smooth, oval pebble, about the size of a pigeon’s egg, a
few chips of gourd-shell, a bamboo splinter about the length of one’s
hand, a small shell, and a bunch of some herb resembling spinach.
Nothing more. The woman scraped with the
shell a round, shallow hole in the soft, fine
sand of the soil, and, when an active young
girl had filled the calabash with water for her,
she began to knead the clay. As if by magic it
gradually assumed the shape of a rough but
already well-shaped vessel, which only wanted
a little touching up with the instruments
before mentioned. I looked out with the
MAKUA WOMAN closest attention for any indication of the use
MAKING A POT. of the potter’s wheel, in however rudimentary
SHOWS THE a form, but no—hapana (there is none). The
BEGINNINGS OF THE embryo pot stood firmly in its little
POTTER’S WHEEL
depression, and the woman walked round it in
a stooping posture, whether she was removing
small stones or similar foreign bodies with the maize-cob, smoothing
the inner or outer surface with the splinter of bamboo, or later, after
letting it dry for a day, pricking in the ornamentation with a pointed
bit of gourd-shell, or working out the bottom, or cutting the edge
with a sharp bamboo knife, or giving the last touches to the finished
vessel. This occupation of the women is infinitely toilsome, but it is
without doubt an accurate reproduction of the process in use among
our ancestors of the Neolithic and Bronze ages.
There is no doubt that the invention of pottery, an item in human
progress whose importance cannot be over-estimated, is due to
women. Rough, coarse and unfeeling, the men of the horde range
over the countryside. When the united cunning of the hunters has
succeeded in killing the game; not one of them thinks of carrying
home the spoil. A bright fire, kindled by a vigorous wielding of the
drill, is crackling beside them; the animal has been cleaned and cut
up secundum artem, and, after a slight singeing, will soon disappear
under their sharp teeth; no one all this time giving a single thought
to wife or child.
To what shifts, on the other hand, the primitive wife, and still more
the primitive mother, was put! Not even prehistoric stomachs could
endure an unvarying diet of raw food. Something or other suggested
the beneficial effect of hot water on the majority of approved but
indigestible dishes. Perhaps a neighbour had tried holding the hard
roots or tubers over the fire in a calabash filled with water—or maybe
an ostrich-egg-shell, or a hastily improvised vessel of bark. They
became much softer and more palatable than they had previously
been; but, unfortunately, the vessel could not stand the fire and got
charred on the outside. That can be remedied, thought our
ancestress, and plastered a layer of wet clay round a similar vessel.
This is an improvement; the cooking utensil remains uninjured, but
the heat of the fire has shrunk it, so that it is loose in its shell. The
next step is to detach it, so, with a firm grip and a jerk, shell and
kernel are separated, and pottery is invented. Perhaps, however, the
discovery which led to an intelligent use of the burnt-clay shell, was
made in a slightly different way. Ostrich-eggs and calabashes are not
to be found in every part of the world, but everywhere mankind has
arrived at the art of making baskets out of pliant materials, such as
bark, bast, strips of palm-leaf, supple twigs, etc. Our inventor has no
water-tight vessel provided by nature. “Never mind, let us line the
basket with clay.” This answers the purpose, but alas! the basket gets
burnt over the blazing fire, the woman watches the process of
cooking with increasing uneasiness, fearing a leak, but no leak
appears. The food, done to a turn, is eaten with peculiar relish; and
the cooking-vessel is examined, half in curiosity, half in satisfaction
at the result. The plastic clay is now hard as stone, and at the same
time looks exceedingly well, for the neat plaiting of the burnt basket
is traced all over it in a pretty pattern. Thus, simultaneously with
pottery, its ornamentation was invented.
Primitive woman has another claim to respect. It was the man,
roving abroad, who invented the art of producing fire at will, but the
woman, unable to imitate him in this, has been a Vestal from the
earliest times. Nothing gives so much trouble as the keeping alight of
the smouldering brand, and, above all, when all the men are absent
from the camp. Heavy rain-clouds gather, already the first large
drops are falling, the first gusts of the storm rage over the plain. The
little flame, a greater anxiety to the woman than her own children,
flickers unsteadily in the blast. What is to be done? A sudden thought
occurs to her, and in an instant she has constructed a primitive hut
out of strips of bark, to protect the flame against rain and wind.
This, or something very like it, was the way in which the principle
of the house was discovered; and even the most hardened misogynist
cannot fairly refuse a woman the credit of it. The protection of the
hearth-fire from the weather is the germ from which the human
dwelling was evolved. Men had little, if any share, in this forward
step, and that only at a late stage. Even at the present day, the
plastering of the housewall with clay and the manufacture of pottery
are exclusively the women’s business. These are two very significant
survivals. Our European kitchen-garden, too, is originally a woman’s
invention, and the hoe, the primitive instrument of agriculture, is,
characteristically enough, still used in this department. But the
noblest achievement which we owe to the other sex is unquestionably
the art of cookery. Roasting alone—the oldest process—is one for
which men took the hint (a very obvious one) from nature. It must
have been suggested by the scorched carcase of some animal
overtaken by the destructive forest-fires. But boiling—the process of
improving organic substances by the help of water heated to boiling-
point—is a much later discovery. It is so recent that it has not even
yet penetrated to all parts of the world. The Polynesians understand
how to steam food, that is, to cook it, neatly wrapped in leaves, in a
hole in the earth between hot stones, the air being excluded, and
(sometimes) a few drops of water sprinkled on the stones; but they
do not understand boiling.
To come back from this digression, we find that the slender Nyasa
woman has, after once more carefully examining the finished pot,
put it aside in the shade to dry. On the following day she sends me
word by her son, Salim Matola, who is always on hand, that she is
going to do the burning, and, on coming out of my house, I find her
already hard at work. She has spread on the ground a layer of very
dry sticks, about as thick as one’s thumb, has laid the pot (now of a
yellowish-grey colour) on them, and is piling brushwood round it.
My faithful Pesa mbili, the mnyampara, who has been standing by,
most obligingly, with a lighted stick, now hands it to her. Both of
them, blowing steadily, light the pile on the lee side, and, when the
flame begins to catch, on the weather side also. Soon the whole is in a
blaze, but the dry fuel is quickly consumed and the fire dies down, so
that we see the red-hot vessel rising from the ashes. The woman
turns it continually with a long stick, sometimes one way and
sometimes another, so that it may be evenly heated all over. In
twenty minutes she rolls it out of the ash-heap, takes up the bundle
of spinach, which has been lying for two days in a jar of water, and
sprinkles the red-hot clay with it. The places where the drops fall are
marked by black spots on the uniform reddish-brown surface. With a
sigh of relief, and with visible satisfaction, the woman rises to an
erect position; she is standing just in a line between me and the fire,
from which a cloud of smoke is just rising: I press the ball of my
camera, the shutter clicks—the apotheosis is achieved! Like a
priestess, representative of her inventive sex, the graceful woman
stands: at her feet the hearth-fire she has given us beside her the
invention she has devised for us, in the background the home she has
built for us.
At Newala, also, I have had the manufacture of pottery carried on
in my presence. Technically the process is better than that already
described, for here we find the beginnings of the potter’s wheel,
which does not seem to exist in the plains; at least I have seen
nothing of the sort. The artist, a frightfully stupid Makua woman, did
not make a depression in the ground to receive the pot she was about
to shape, but used instead a large potsherd. Otherwise, she went to
work in much the same way as Salim’s mother, except that she saved
herself the trouble of walking round and round her work by squatting
at her ease and letting the pot and potsherd rotate round her; this is
surely the first step towards a machine. But it does not follow that
the pot was improved by the process. It is true that it was beautifully
rounded and presented a very creditable appearance when finished,
but the numerous large and small vessels which I have seen, and, in
part, collected, in the “less advanced” districts, are no less so. We
moderns imagine that instruments of precision are necessary to
produce excellent results. Go to the prehistoric collections of our
museums and look at the pots, urns and bowls of our ancestors in the
dim ages of the past, and you will at once perceive your error.
MAKING LONGITUDINAL CUT IN
BARK
DRAWING THE BARK OFF THE LOG
REMOVING THE OUTER BARK

BEATING THE BARK
WORKING THE BARK-CLOTH AFTER BEATING, TO MAKE IT

SOFT
MANUFACTURE OF BARK-CLOTH AT NEWALA

To-day, nearly the whole population of German East Africa is
clothed in imported calico. This was not always the case; even now in
some parts of the north dressed skins are still the prevailing wear,
and in the north-western districts—east and north of Lake
Tanganyika—lies a zone where bark-cloth has not yet been
superseded. Probably not many generations have passed since such
bark fabrics and kilts of skins were the only clothing even in the
south. Even to-day, large quantities of this bright-red or drab
material are still to be found; but if we wish to see it, we must look in
the granaries and on the drying stages inside the native huts, where
it serves less ambitious uses as wrappings for those seeds and fruits
which require to be packed with special care. The salt produced at
Masasi, too, is packed for transport to a distance in large sheets of
bark-cloth. Wherever I found it in any degree possible, I studied the
process of making this cloth. The native requisitioned for the
purpose arrived, carrying a log between two and three yards long and
as thick as his thigh, and nothing else except a curiously-shaped
mallet and the usual long, sharp and pointed knife which all men and
boys wear in a belt at their backs without a sheath—horribile dictu!
[51]
Silently he squats down before me, and with two rapid cuts has
drawn a couple of circles round the log some two yards apart, and
slits the bark lengthwise between them with the point of his knife.
With evident care, he then scrapes off the outer rind all round the
log, so that in a quarter of an hour the inner red layer of the bark
shows up brightly-coloured between the two untouched ends. With
some trouble and much caution, he now loosens the bark at one end,
and opens the cylinder. He then stands up, takes hold of the free
edge with both hands, and turning it inside out, slowly but steadily
pulls it off in one piece. Now comes the troublesome work of
scraping all superfluous particles of outer bark from the outside of
the long, narrow piece of material, while the inner side is carefully
scrutinised for defective spots. At last it is ready for beating. Having
signalled to a friend, who immediately places a bowl of water beside
him, the artificer damps his sheet of bark all over, seizes his mallet,
lays one end of the stuff on the smoothest spot of the log, and
hammers away slowly but continuously. “Very simple!” I think to
myself. “Why, I could do that, too!”—but I am forced to change my
opinions a little later on; for the beating is quite an art, if the fabric is
not to be beaten to pieces. To prevent the breaking of the fibres, the
stuff is several times folded across, so as to interpose several
thicknesses between the mallet and the block. At last the required
state is reached, and the fundi seizes the sheet, still folded, by both
ends, and wrings it out, or calls an assistant to take one end while he
holds the other. The cloth produced in this way is not nearly so fine
and uniform in texture as the famous Uganda bark-cloth, but it is
quite soft, and, above all, cheap.
Now, too, I examine the mallet. My craftsman has been using the
simpler but better form of this implement, a conical block of some
hard wood, its base—the striking surface—being scored across and
across with more or less deeply-cut grooves, and the handle stuck
into a hole in the middle. The other and earlier form of mallet is
shaped in the same way, but the head is fastened by an ingenious
network of bark strips into the split bamboo serving as a handle. The
observation so often made, that ancient customs persist longest in
connection with religious ceremonies and in the life of children, here
finds confirmation. As we shall soon see, bark-cloth is still worn
during the unyago,[52] having been prepared with special solemn
ceremonies; and many a mother, if she has no other garment handy,
will still put her little one into a kilt of bark-cloth, which, after all,
looks better, besides being more in keeping with its African
surroundings, than the ridiculous bit of print from Ulaya.
MAKUA WOMEN

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Genetics and Genomics in Nursing

Health Care 2nd Edition

5. Genomics and diseasemanagement

Carrie J. Merkle, PhD, RN, FAAN

Punnett Squares 158 UNIT IV Genomic Influences

UNITV Genomics and Disease UNITVI Global Genomic

Figure 1-1 Human cell and its nucleus with

-- One small segment

the entire genome

Chromosome composed of a large I Six base pairs

Figure 1-2 Different forms of cellular (nuclear) DNA.

Insulin gene region (11q13){ h:~- ....

T-A complementary base pair

One nucleoside -------;

One nucleotide ----

Linear and straight complementarystrands

Figure 1-5 Double-stranded (ds) DNA arranged as

Figure 1-6 An 8-base-pair segment of double-stranded (ds) DNA

Breaking of hydrogen bonds and separation

Strand separation is --_ .........

New sets of ds-DNA, each retaining one

Plasma Nucleolus Nuclear Chromosome. Centromere

Telophase and Cytokinesis

Short Satellite Stalk

Examples of Common Single-Gene Traits

A. B, 0 blood groups Achondroplasia

Dominant and Recessive Single-Gene Traits

Genotype and Phenotype

Newala, too, suffers from the distance of its water-supply—at least

The water-supply of New Newala is in the bottom of the valley,

NATIVE PATH THROUGH THE MAKONDE BUSH, NEAR

MAKONDE LOCK AND KEY AT JUMBE CHAURO

MODE OF INSERTING THE KEY

With no small pride first one householder and then a second

Some consolation was afforded me by a brassfounder, whom I

SMOOTHING WITH MAIZE-COB

CUTTING THE EDGE

LAST SMOOTHING BEFORE

FIRING THE BRUSH-PILE

TURNING THE RED-HOT VESSEL

NYASA WOMAN MAKING POTS AT MASASI

DRAWING THE BARK OFF THE LOG

REMOVING THE OUTER BARK

WORKING THE BARK-CLOTH AFTER BEATING, TO MAKE IT

MANUFACTURE OF BARK-CLOTH AT NEWALA

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