MODULE 1 | OVERVIEW AND HISTORY OF Types of chromosomes:

CYTOGENETICS  autosomes - 22 pairs of numbered

chromosomes
GENETICS  sex chromosome - X and Y
- scientific study of genes and inheritance in chromosomes
living organism
- the study of inherited traits and their CHROMOSOME NUMBER OF DIFFERENT
variation SPECIES

Types: Common Species Diploid

 Human genetics Name Number
o heredity in man Human Homo sapiens 46
 Medical genetics
o study of genetic variations medical Dog Canis Iupus 78
significance familiaris
5 Divisions: Cat Felis 38
 Clinical Genetics domesticus
- medical specialty
 Genetic Counseling Mouse Mus musculus 40
- giving information of the
Frog Rana pipiens 26
disease; advice
 Molecular Genetics Fruit fly Drosophila 8
- genetics at molecular level; melanogaster
not only chromosomes also
Corn Zea mays 20
DNA
 Biochemical Genetics Potato Solanum 48
- study of the processes tuberosum
 Cytogenetics
- study of inheritance in GENE
relation to the function and Approximately 20k in human body
structure of chromosomes - basic physical unit of inheritance
- are the instructions to manufacture
CYTOGENETICS proteins, which determine inherited traits
- branch of genetics that studies the - passed from parents to offspring and
structure of DNA within the cell nucleus contain info needed to specify traits
- study of chromosomes
- involves testing samples of tissue, blood, or MUTATION
bone marrow in a laboratory to look for - a change in a DNA sequence
chromosomal changes - result from DNA copying mistakes made:
 during cell division
HEREDITY  exposure to ionizing radiation
- passing of genetic factors from parents to  exposure to mutagens
offspring or from one generation to the next  infection by viruses
- came from the Latin "hereditat" -  Cervical cancer - caused by
inheritance HPV

CHROMOSOMES (46 total; 23 pairs) SPECIES

- organized package of DNA found in the - A group of organisms that share a genetic
nucleus of the cell heritage, are able to interbreed, and
- consist of DNA and Protein create offspring
- the structure housing DNA in a cell - differ in geographical instances
 - one of the specific classification to describe
animals
EVOLUTION
- process by which organism change over
time
Three components:
1. All organism are descended from a
common ancestor
2. There is a gradual change over time
3. Natural selection operates upon
changes resulting in emergence of
species that have particular abilities to
survive in a niche
CHROMOSOMES (46 total; 23 pairs)
- organized package of DNA found in the
nucleus of the cell
- consist of DNA and Protein
- the structure housing DNA in a cell
Types of chromosomes:
 autosomes - 22 pairs of numbered
chromosomes
 sex chromosome - X and Y
chromosomes

NATURAL SELECTION
- process that result in the adaptation of an
organism to its environment by means of
selectively reproducing changes in its
genotype

CONCEPTS OF GENETICS

TRAIT
- specific characteristics of an organism
- can determined by genes or environment
 genotype - genetic contribution to a
trait
 phenotype - outward expression of the
genotype

 MONOGENIC TRAIT
- a trait produced by the effect of a
gene or an allele
- follows Mandelian inheritance
 POLYGENIC TRAIT
- phenotype is influenced by more
than one gene
- traits that displays a continuous
distribution
- also influence by the environment
and is called multifactorial
 MENDELIAN TRAIT
- trait passed to progeny which
follows Mendelian laws
- a categorical trait that segregate in
accordance with a single-locus
genetic system
ALLELE
- one of two or more versions of a gene
- people inherit one allele from each
autosomal gene from each parent
GENETIC COMPOSITION
GENOTYPE
- individuals collection of genes
- expressed when the information encoded
in the genes DNA is used to make protein
and RNA molecules
replication-transcription-translation
HOMOZYGOUS
- genetic condition where an individual
inherits the same allele for a particular
gene from both parents
 - both alleles at a locus are the same
BIRTH AND PROGRESS OF HUMAN
CYTOGENETICS

ALBUCASIS
- Arab physician
- first described hemophilia as a genetic
disorder

HETEROZYGOUS
- refers to having inherited different forms of
a particular gene from each parent
- the 2 alleles at a locus are different

Capital - Dominant

PHENOTYPE
- “phenol” means observe
- an individual’s observable trait:
o height
o eye color WALTER FLEMMING
o blood type

DOMINANT
- Austrian cytologist and professor of
- allele that would be expressed
anatomy
- refers to the relationship between two
- published the first illustration of human
versions of a gene
chromosomes in 1882
- referred to the stainable portion of the
RECESSIVE
nucleus as chromatin
- a quality found in the relationship between
- First used the term mitosis
two versions of a gene
- refers to a type of allele which will not be
HEINRICH WILHEM GOTTFRIED WALDEYER
manifested in an individual unless both of
- introduced the word chromosomes, from
the individuals copies of that gene have
the Greek word for “colored body"
that particular genotype
- noted the ability of thread-like structures in
the nucleus, stained by the dye fuchsin
CO-DOMINANTS
- a relationship between two versions of a
1600s
gene
Robert Hooke
- neither allele is recessive and the
- looks at the structure under microscope
Phenotype of both alleles are expressed
and calls them cells
Anton van Leeuwenhoek
- improved the compound microscope
- 1st scientist to observe and differentiate 1985
rbcs, bacteria and to see sperm in semen Kary Mullis
- polymerase chain reaction--multiply DNA
1859 (copies)
Charles Darwin
- father of evolution 1995
- English naturalist whose scientific theory of Venter, Faster, and Hamilton Smith
evolution by natural selection become the - publish the first sequence of the free living
foundation of modern evolutionary studies bacteria - Haemophilus influenzae
- book published – “The Origin Of Species
By Means Of Natural Selection” 1996
Dolly the sheep was born
1866 - first ever cloned animal from an adult
Gregor Mendel somatic cell
- first person to lay the mathematical - died pneumonia
foundation of the science of genetics
- Australian monch 2001
CC (Copy Cat) the cat was born
1869 - 1st pet to be cloned
Friedrich Miescher
- identified acidic substance found in the cell ADDITIONAL CONTRIBUTIONS IN
nuclei of White blood cells, now called DNA CYTOGENETICS

1900  Levitsky
William Bateson - formulated the term karyotype to
- coined the word genetics refer to the ordered arrangement of
chromosomes
1910  Tijo and Levan
Thomas Hunt Morgan - diplomatically reported that the
- Confirms the chromosome theory of human diploid chromosome
heredity using studies of eye color or fruit number appeared to be 46
flies  Lejuene and Colleagues
- described an extra chromosome
1911 from patients with Down syndrome
E.B Wilson  Ford et al.
- identify X chromosomes as the location for - reported that females with Turner
gene for color blindness syndrome have 45 chromosomes
 Jacobs and Strong
1950 - demonstrated that men with
Erwin Chargoff Klinefelter syndrome have 47
- show that 4 nucleotides are present in DNA chromosomes
 Murray Barr
- discovered X chromatin or the Barr
body
 Nowell and Hungerford
- reported the presence of the
1952 “Philadelphia chromosome” in
Martha Chase and Alfred Hershey chronic myelogenous leukemia
- uses phages to demonstrate that final proof  Lejuene et al.
that DNA is the element of heredity
 - reported cri du chat (“cat cry”)
syndrome

HUMAN CHROMOSOME MORPHOLOGY

KARYOTYPE
- describe the chromosome complement of
an individual or species in terms of
number, size, and morphology of its
chromosomes
- can be based on mitotic or meiotic
chromosomes and are enhanced by
chromosome-banding techniques

BANDING PATTERN OF CHROMOSOMES

- Chromosome banding allows the

identification of chromosome deletions,
duplications, translocations, inversions,
and other less common chromosome
abnormalities
- Chromosome ideograms used in
identifying chromosomes, are used to
cytogeneticists to show the relative sizes
and the characteristics banding patterns
of chromosomes