G E N E T I C S-1

Module 1.2

KARYOTYPING
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LEARNING OUTCOMES

• Describe the basic morphology of chromosomes and define and illustrate

metacentric, sub-metacentric, acrocentric & telocentric chromosomes.

• Describe G-banding as a chromosomal staining technique that produces

specific banding patterns.

• Use the established nomenclature for the identification of specific

chromosomal regions and sub-regions.

• Describe the human genome as comprising 22 pairs of autosomes and a

pair of sex chromosomes.

• Explain the term, ‘ploidy’ , using humans as examples of diploids.

• Describe the features of homologous chromosomes.

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THE CHROMOSOME
• The unit of packaging of genetic information.

• The Chromosome Theory of Inheritance states that genes are

the units of heredity and that they are located on
chromosomes.

• In eukaryotes chromosomes comprise a single DNA molecule

tightly wound around cores of histone proteins.

• Eukaryotic chromosomes are linear.

• Chromosomal morphology may vary but they have the same

basic structure.
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CHROMOSOME STRUCTURE
Nucleosome- nuclear complex
comprising 4 pairs of histone
molecules wrapped around two
turns of a DNA molecule.

The nucleosome thread is the

primary structure of the
chromosome.

Histones- H2A, H2B, H3 and H4 protect the

nucleosome core from cleavage by
endonucleases. Nucleosome core is stabilised
by H1 histone protein.
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CHROMOSOME STRUCTURE
The chromatin fibre
is the secondary
structure of the
chromosome.

30 nm- wide
Chromatin fibre (11nm wide) chromatin fibre
(tertiary
structure)
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CHROMOSOME STRUCTURE
The final metaphase chromosome is the quaternary structure of the chromosome.

RH RH LH

B A Z
Low salt high salt synthetic
Forms of DNA in chromosomes

RH = right-handed coiling; LH = left handed coiling

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CHROMOSOME STRUCTURE
Telomere:

• These are located at the very

tips/ends of the chromosome.

• They lend stability and provide

integrity to the structure of the
chromosome by ensuring the ends
of the chromosome are replicated
properly.

• Prevents chromosomes from

sticking to each other.
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CHROMOSOME STRUCTURE

Centromere (primary constriction):

• The centromere is a constriction that divides the chromosome

into two sections.

• Depending on its position, the chromosome can have a short arm

and a long arm.

• It functions specifically in sister chromatid adhesion, spindle

attachment in cell division and proper alignment/pairing of
homologous chromosomes.
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CHROMOSOME A B C D
STRUCTURE

A: Metacentric / mesocentric: C: Acrocentric:

centromere roughly located in middle of centromere located near end of the
chromosome dividing it into two equal chromosome dividing it into a very short
arms. arm (p) and a very long arm (q).

B: Submetacentric: D: Telocentric:
centromere is slightly off centre dividing centromere is at the end of the
chromosome into a short arm (p) and a chromosome so only a long arm is
long arm (q). created.
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CHROMOSOME STRUCTURE

Chromosomes can be distinguished according to:

1. Size / Length: 0.5 - 400 μm length

2. Shape (Position of the centromere)

3. Banding Pattern
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CHROMOSOME STRUCTURE
Banding Pattern

• Each chromosome has a specific banding pattern.

• The bands vary in intensity of light and dark.

• Bands correspond to regions of tight coiling (heterochromatin)

and regions of loose coiling (euchromatin).

• Generally, staining techniques (e.g. G-banding) are used to reveal

banding patterns:
• Heterochromatin stains darker than euchromatin due to
tight packing.
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KARYOTYPE

• A karyotype is a diagrammatic representation of all the

chromosomes of a somatic cell at the mitotic metaphase
arranged in homologous pairs of decreasing size.

• The human genome consists of 23 pairs of chromosomes

= 46 chromosomes in total.

• Females have two X-chromosomes while males have one X-

chromosome and one Y-chromosome.

• These chromosomes are referred to as sex chromosomes while

the other 22 pairs are referred to as autosomes or autosomal
chromosomes.
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Human karyotype
Girls- 22 pairs of
autosomal
chromosomes + 1 pair
of XX chromosomes.

Boys- 22 pairs of
autosomal
chromosomes + 1 pair
of XY chromosomes.
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Human chromosomes are divided into 7 groups & sex chromosomes:
• A: 1-3 - Large metacentric

• B: 4,5 - Large submetacentric

• C: 6-12, X - Medium sized, submetacentric

• D: 13-15 - medium-sized acrocentric plus satellites

• E: 16-18 - short metacentric 16 or submetacentric 17,18

• F: 19-20 - Short metacentrics

• G: 21,22,Y - Short acrocentrics with satellites. Y no satellites.

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KARYOTYPE
Chromosome number

Total number of chromosomes in a somatic cell (2X = 46 for

humans).

Basic chromosome number (x)

Number of unique chromosomes (monoploid number) in a somatic

cell (23 for humans).

Basic chromosome set

The unique chromosome set of a somatic cell.

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USES OF KARYOTYPE
• Provides a means of identifying chromosomal aberrations from
the type (normal) karyotype.
• Identifies changes in chromosomes structure, size and
chromosome number (e.g. Down syndrome-trisomy 21).

• Comparison of karyotypes of different species allow

determination of taxonomic relationships.
• Helps reform and correct taxonomic relationships.

• Enables the understanding of evolution, where small chromosomal

changes accumulate over time in a linear fashion.
• Fewer changes imply recent divergence.
• Can help us construct phylogenetic trees.
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SUMMARY
• Chromosome theory of inheritance.

• Chromosome organization:
• Chromosome number, basic chromosome number,
chromosome set.

• Karyotyping allows characterization of the basic chromosome

set:
• Size, length, shape
• Various types of banding patterns by differential staining
• Heterochromatin vs. euchromatin.