Module 2: CYTOGENETICS

TOPICS
• Meaning of cytogenetics
• Important terminologies:
–Chromatin
–chromosome
 Cytogenetics
• Cytogenetics is the study of
chromosomes and their role in
heredity
• The goal of cytogenetics:
– diagnosis of chromosomal
abnormalities.
– localization of any (often abnormal)
chromosomal region/DNA sequence.
• Terms:
– Chromatin: non condensed DNA with proteins
attached (interphase of the cell cycle)
– Chromosome: condensed DNA with proteins
attached (M phase of the cell cycle)
– Human cells contain 46 chromosome, 44
autosome and 2 sex chromosome.
– A karyotype is the number and appearance of
chromosomes in the nucleus of a eukaryotic
cell. The term is also used for the complete
set of chromosomes in a species, or an
individual organism.
• The chromosomes are depicted (by
rearranging a microphotograph) in a
standard format known as a karyogram
or idiogram: in pairs, ordered by size
and position of centromere for
chromosomes of the same size.
The steps of chromosome assembly:
Chromosome Structure:
 Chromosome banding:

The chromosome banding techniques use

different chemicals to stain the
chromosomes in order to identify them or to
show chromosomal rearrangements. Based
on the stains used the following banding
techniques exist:
 Chromosome banding:

• G-banding: Giemsa staining

• R-banding: (reverse) modified Giemsa
staining
• C-banding: centromer specific staining
• T-banding: telomer specific staining
• Q-banding: quinacrin staining (fluorescent)
HUMAN KARYOTYPE
 Human karyotype is the arrangement of
chromosomes in seven groups according to
the types of chromosomes and their size.
• It is prepared by arranging chromosomes seen at
mitotic metaphase.
• Total no. of chromosomes or 2n = 46 (23 pairs).
• Number of autosomes = 44 (22 pairs).
• Sex chromosomes = X and Y = 2
• Depending on size, location of centromere, and
bands obtained by special staining methods, human
chromosomes are grouped into 7 groups A to G as
shown in slide 12.
• Sex determination in humans, as you have already learnt
is as follows:
a. Normal male 22 pairs of autosomes + one X
chromosome and one Y chromosome
b. Normal female 22 pairs of autosomes + two X
chromosome

• Presence of Y is necessary for maleness.

• Absence of Y chromosomes makes the individual a
female