GENE STRUCTURE AND

CHROMOSOMES
LENNOX MAC-ANKRAH
 OUTLINE
• INTRODUCTION TO GENETICS

• CHROMOSOME STRUCTURE

• KARYOTYPING

• TELOMERE AND ITS FUNCTION

• LEVELS OF GENETIC ANALYSIS

 INTRODUCTION
• Genetics is the study of heredity and the variation of inherited
characteristics.

• Heredity is a biological process where a parent passes certain genes

onto their children or offspring.

• Variation refers to a genetic change that causes differing

characteristics between organisms in a certain species

• Every child inherits genes from both of their biological parents and
these genes in turn express specific traits.
• Some of these traits may be physical for example hair and eye
color and skin color etc.

• On the other hand some genes may also carry the risk of certain
diseases and disorders that may pass on from parents to their
offspring.

• A gene is a locus (or region) of DNA which is made up of

nucleotides and is the molecular unit of heredity

• The history of genetics started with the work of the Gregor Johann
Mendel.
• His work on pea plants, published in 1866, described what came to
be known as Mendelian inheritance. Many theories of heredity
proliferated in the centuries before and for several decades after
Mendel's work

• The human genome contains 46 chromosomes. Human sperm and

eggs, which have only one homologous chromosome from each
pair, are said to be haploid (1n).

• The genome contains approximately 3 billion base pairs and about

20,000 genes (that encode proteins)
• DNA sequence in any two people is 99.9% identical –
only 0.1% is unique!

• Only about 1.2% of our genome encode proteins and

the other 98.8% is non coding DNA .

• Some of the non coding DNA code for RNA molecules

and regulatory elements
A summary of the structural relationship between genes, DNA and
chromosomes

Nucleus
(control centre of the cell, containing chromosomes)

Chromosomes
(long strands of DNA, tightly coiled around histone proteins)

DNA
(heredity material, carrying all the genetic information)

Gene
(short section of DNA determining a specific characteristic of a cell/organism)
 CHROMOSOMES
• In a cell, DNA does not usually exist by itself, but instead
associates with specialized proteins that organize it and
give it structure.

• In eukaryotes, these proteins include the histones, a group

of basic (positively charged) proteins that form “bobbins”
around which negatively charged DNA can wrap.
• In addition to organizing DNA and making it more
compact, histones play an important role in determining
which genes are active.

• The complex of DNA plus histones and other structural

proteins is called chromatin
Histone And Chromosome Structure
• For most of the life of the cell, chromatin is decondensed,
meaning that it exists in long, thin strings under the
microscope.

• In this state, the DNA can be accessed relatively easily by

cellular machinery (such as proteins that read and copy DNA),
which is important in allowing the cell to grow and function

• Condensation takes place when the cell is about to divide.

• Bacteria also have chromosomes, but their chromosomes are

typically circular
• Chromosomes are not visible in the cell’s nucleus—not even under
a microscope—when the cell is not dividing. However, the DNA
that makes up chromosomes becomes more tightly packed during
cell division and is then visible under a microscope.

• Most of what researchers know about chromosomes was learned

by observing chromosomes during cell division.

• Each chromosome has a constriction point called the centromere,

which divides the chromosome into two sections, or “arms.” The
short arm of the chromosome is labeled the “p arm.” The long arm
of the chromosome is labeled the “q arm.”
• The location of the centromere on each chromosome gives the
chromosome its characteristic shape, and can be used to help
describe the location of specific genes.

• The symbol "p" was chosen to designate the short arm because
"p" stands for "petit", "small" in French. The letter "q" was
selected to signify the long arm merely because "q" is the next
letter in the alphabet.
Development and chromosomes
• Differences in chromosomes are associated with difference in the
way we grow.

• The karyograms of males and females are not the same

Females have two large X chromosomes
Males have a large X and a small Y chromosome
The X and the Y chromosomes are called sex chromosomes
The sex chromosomes are placed at the end of the karyotype

• Unusual growth can be associated with chromosome

abnormalities
e.g. People who develop Down syndrome have trisomy 21

© 2016 Paul Billiet ODWS

 DEFINITION OF CHROMOSOME

It is a combination of two words, i.e., “Chroma”-means ‘colour’

and “Somes”-means ‘body’.

So the coloured thread like bodies present in the nucleoplasm

of the living cells, which helps in the inheritance (transmission)
of characters in form of Genes from generation to generation
are known as CHROMOSOMES.
 NUMBER OF CHROMOSOMES

The number of chromosomes per organism is always a definite number,

Which is said as Diploid (2n) no., but gametes, sperms, ova etc. carry
Haploid (n) number. Some examples are given below.

Name of the Diploid No. Name of the Diploid No.

organism (2n) organism (2n)

Human beings ---- 46 Onions ----- 16

Cat ---- 38 Corn ----- 20
 PHYSICAL STRUCTURE
Size varies from 1 to 30 micron in length and diameter from 0.2
to 2 micron.
CENTROMERE:- The non-stainable part of the chromosome
making a primary constriction.
CHROMATIDS:- Two chromatids join at the centromere to form
a chromosome.
CHROMONEMA:- In each chromatid, there are two longitudinal
chromonemata coiled with each other.
CHROMOMERES:- In each chromonemata, there are “bead”
like chromomeres present through out the coil.
GENES:- Each chromomeres contains genes, the unit of
inheritance of character.

SURFACE VIEW
 TYPES OF CHROMOSOMES

1. TELOCENTRIC:- The centromere is CENTROMERE

present at the end of the chromosomes.

LONG ARM
SHORT ARM

CENTROMERE
2. ACROCENTRIC:-The centromere
is almost terminal. It has one large an
LONG ARM d another very small arm.
 TYPES OF CHROMOSOMES
(CONTINUED)

SHORT ARM 3. SUB-METACENTRIC:- Here the centromere

nis not at the middle position of the
CENTROMERE
chromosomes. So the arms are unequal and it
is ‘L-Shaped’ in appearance.

LONG ARM
TWO EQUAL ARMS

4. METECENTRIC:- The centromere

is at the middle position. So the arms
are equal and it is ‘V-Shaped’ in app
CENTROMERE
earance.
 CHEMICAL STRUCTURE

Chemically the chromosomes are made of

proteins and nucleic acids.

PROTEINS It is mainly Protamines, Histones and smaller amount

of acidic proteins.

NUCLEIC ACIDS It is de-oxy ribose Nucleic Acids (DNA). Genes

are nothing but the segments of DNA.

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HYPERLINK
 Telomere
• Telomeres are an essential part of human cells that affect how our
cells age.

• A telomere is a region of repetitive nucleotide sequences at each

end of a chromosome, which protects the end of the chromosome
from deterioration or from fusion with neighboring chromosomes

• Telomeres are the caps at the end of each strand of DNA that
protect our chromosomes, like the plastic tips at the end of
shoelaces
• Our cells replenish by copying themselves. This
happens constantly throughout our lives.

• Telomeres get shorter each time a cell copies itself,

but the important DNA stays intact.

• Eventually, telomeres get too short to do their job,

causing our cells to age and stop functioning
properly. Therefore, telomeres act as the aging clock
in every cell.
• We inherit telomeres from our parents, but no matter the
length of our telomeres at birth, everyone’s get shorter as
they age.

• Shorter telomeres have a negative effect on our health.

Telomere shortening is the main cause of age-related break
down of our cells.

• When telomeres get too short, our cells can no longer

reproduce, which causes our tissues to degenerate and
eventually die.
• Some cells, like those found in the skin, hair and
immune system, are most affected by telomere
shortening because they reproduce more often.

• In humans the telomere sequence is TTAGGG.

• This sequence is usually repeated about 3,000 times

and can reach up to 15,000 base pairs in length.
Telomeres serve three major purposes:

• They help to organise each of our 46 chromosomes in the

nucleus of our cells

• They protect the ends of our chromosomes by forming a

cap. If the telomeres were not there, our chromosomes
may end up sticking to other chromosomes.

• They allow the chromosome to be replicated properly

during cell division:
• Every time a cell carries out DNA replication the
chromosomes are shortened by about 25-200 bases (A,
C, G, or T) per replication.

• However, because the ends are protected by telomeres,

the only part of the chromosome that is lost, is the
telomere, and the DNA is left undamaged.

• Without telomeres, important DNA would be lost every

time a cell divides (usually about 50 to 70 times). This
would eventually lead to the loss of entire genes
 HOW IS TELOMERE LENGTH MAINTAINED
• Telomerase is an enzyme that adds the TTAGGG telomere sequence
to the ends of chromosomes.

• Telomerase is only found in very low concentrations in our somatic

cells. Because these cells do not regularly use telomerase they age
leading to a reduction in normal function. The result of ageing cells,
is an ageing body.

• Telomerase is found in high levels in germline cells (egg and sperm)

and stem cells. In these cells telomere length is maintained after
DNA replication and the cells do not show signs of ageing.
• Telomerase is also found in high levels in cancer? cells. This
enables cancer cells to be immortal and continue
replicating themselves.

• If telomerase activity was switched off in cancer cells,

their telomeres would shorten until they reached a ‘critical
length’. This would, prevent the cancer cells from dividing
uncontrollably to form tumours.

• The action of telomerase allows cells to keep multiplying

and avoid ageing
 Locating a gene on a chromosome
• Geneticists use maps to describe the location of a particular gene on a
chromosome.

• One type of map uses the cytogenetic location to describe a gene’s

position.

• The cytogenetic location is based on a distinctive pattern of bands created

when chromosomes are stained with certain chemicals.

• Another type of map uses the molecular location, a precise description of a

gene's position on a chromosome. The molecular location is based on the
sequence of DNA building blocks (base pairs) that make up the
chromosome
 Cytogenetic location
• Geneticists use a standardized way of describing a gene's
cytogenetic location. In most cases, the location describes
the position of a particular band on a stained chromosome:
17q12

• It can also be written as a range of bands, if less is known

about the exact location: 17q12-q21

• The combination of numbers and letters provide a gene's

“address” on a chromosome.
• This address is made up of several parts:
1. The chromosome on which the gene can be found. The first
number or letter used to describe a gene's location represents
the chromosome. Chromosomes 1 through 22 (the autosomes)
are designated by their chromosome number. The sex
chromosomes are designated by X or Y.

2. The arm of the chromosome.. For example, 5q is the long arm of

chromosome 5, and Xp is the short arm of the X chromosome.
3. The position of the gene on the p or q arm. The position of a gene
is based on a distinctive pattern of light and dark bands that appear
when the chromosome is stained in a certain way.
The position is usually designated by two digits (representing a region
and a band), which are sometimes followed by a decimal point and
one or more additional digits (representing sub-bands within a light or
dark area).
The number indicating the gene position increases with distance from
the centromere. For example: 14q21 represents position 21 on the
long arm of chromosome 14. 14q21 is closer to the centromere than
14q22.
 Additional information
• Sometimes, the abbreviations “cen” or “ter” are also used
to describe a gene's cytogenetic location. “Cen” indicates
that the gene is very close to the centromere. For example,
16pcen refers to the short arm of chromosome 16 near the
centromere. “

• Ter” stands for terminus, which indicates that the gene is

very close to the end of the p or q arm. For example, 14qter
refers to the tip of the long arm of chromosome 14.
• “Tel” is also sometimes used to describe a gene's location.
“Tel” stands for telomeres, which are at the ends of each
chromosome. The abbreviations “tel” and “ter” refer to
the same location
The CFTR gene is located on the long arm of
chromosome 7 at position 7q31.2
 Molecular location
• The Human Genome Project, an international research
effort completed in 2003, determined the sequence of base
pairs for each human chromosome.

• This sequence information allows researchers to provide a

more specific address than the cytogenetic location for
many genes.

• A gene’s molecular address pinpoints the location of that

gene in terms of base pairs.
• It describes the gene’s precise position on a
chromosome and indicates the size of the gene.

• Knowing the molecular location also allows

researchers to determine exactly how far a gene is
from other genes on the same chromosome.
 KARYOTYPING
• A karyotype is simply a picture of a person’s chromosomes.

• In order to get this picture, the chromosomes are isolated, stained, and
examined under the microscope.

• Most often, this is done using the chromosomes in the white blood cells. A
picture of the chromosomes is taken through the microscope.

• Then, the picture of the chromosomes is cut up and rearranged by the

chromosome’s size. The chromosomes are lined up from largest to smallest.
A trained cytogeneticist can look for missing or extra pieces of chromosome
• There are 22 numbered pairs of chromosomes called
autosomes.

• The 23rd pair of chromosomes are the sex

chromosomes. They determine an individual’s
gender.

• Females have two X chromosomes, Each

chromosome has been assigned a number based on
its size.
 KARYOTYPING
• Karyotyping is a laboratory procedure that allows a doctor to
examine ones set of chromosomes. .

• Examining chromosomes through karyotyping allows a doctor to

determine whether there are any abnormalities or structural
problems within the chromosomes

• When a cell isn’t in the process of division, the chromosomes are

arranged in a spread out, unorganized way. During division, the
chromosomes in these new cells line up in pairs.
• A karyotype test examines these dividing cells. The pairs of
chromosomes are arranged by their size and appearance.
This helps doctors easily determine if any chromosomes
are missing or damaged.
 WHY IS IT USEFUL?
• An unusual number of chromosomes, incorrectly arranged chromosomes, or
malformed chromosomes can all be signs of a genetic condition.

• The test is also useful for identifying the Philadelphia chromosome. Having
this chromosome can signal chronic myelogenous leukemia (CML)., Down
syndrome and Turner syndrome.

• Babies can be karyotype tested before they’re born to diagnose genetic

abnormalities that indicate serious birth defects, such as Klinefelter
syndrome. In Klinefelter syndrome, a boy is born with an extra X
chromosome
 HOW IS IT DONE ?
• The first step in karyotyping is to take a sample of your cells. The sample
cells can come from a number of different tissues. This can include:

bone marrow
blood
amniotic fluid
placenta

• Sampling can be done using various methods, depending on which area of

your body is being tested. For example, the doctor will use amniocentesis to
collect the sample if amniotic fluid needs to be tested
• After the sample has been taken, it’s placed in a laboratory dish
that allows the cells to grow. A lab technician will take cells from
the sample and stain them. This makes it possible for your doctor
to view the chromosomes under a microscope.

 These stained cells are examined under a microscope for potential

abnormalities. Abnormalities can include:

extra chromosomes
missing chromosomes
missing portions of a chromosome

extra portions of a chromosome

portions that have broken off of one chromosome and

reattached to another

• The lab technician can see the chromosomes’ shape, size,

and number. This information is important in determining
if there are any abnormalities.
• Test results may be skewed if one is undergoing
chemotherapy. Chemotherapy can cause breaks in
chromosomes, which will appear in the resulting images
genetic abnormalities

• Complications can sometimes result from these testing

methods, but they’re rare. There’s a slight risk of bleeding
and infection from having blood drawn or having your
bone marrow biopsied. Amniocentesis carries a very
minimal risk of miscarriage
 Levels of Genetic Analysis
• Genetic analysis is practiced at different levels. The oldest
type of genetic analysis follows in Mendel’s footsteps
• Another type of genetic analysis follows in the footsteps of
Watson and Crick and the army of people who have worked
on the various genome projects
• Still another type of genetic analysis imitates Darwin and
Wallace by focusing on entire populations of organisms
• All these levels of genetic analysis are routinely used in
research today
 Levels of Genetic Analysis
• In classical genetic analysis, genes are studied by
following the inheritance of traits in crosses between
different strains of an organism.
• In molecular genetic analysis, genes are studied by
isolating, sequencing, and manipulating DNA and by
examining the products of gene expression.
• In population genetic analysis, genes are studied by
assessing the variability among individuals in a group of
organisms
 READING ASSIGNMENTS
• Read on model organisms used in the study of
genetics
• Read on scientists who contributed to the
development of the field of genetics