KARYOTYPE

ANALYSIS AND
ITS EVOLUTION
Shagun
2232380007
 KARYOTYPE
A photographic arrangement of a
complete set of chromosomes of
a cell or organism arranged in a
specific order based on a
standard classification system
Karyotyping: process of
preparation of the karyotype.

Karyogram from a human female using FISH

KARYOTYPE HUMAN
MALE (44XY)
CHARACTERISTICS OF
KARYOTYPES ARE:-
1. Differences in absolute sizes of chromosomes. Chromosomes can vary in absolute size by as
much as twenty-fold between genera of the same family: Lotus tenuis and Vicia faba (legumes),
both have six pairs of chromosomes (n=6) yet V. faba chromosomes are many times larger. This
feature probably reflects different amounts of DNA duplication.
2. differences in the position of centromeres. This is brought about by translocations.
3. differences in relative size of chromosomes can only be caused by segmental
interchange of unequal lengths.
4. differences in basic number of chromosomes
5. differences in number and position of satellites, which (when they occur) are small
bodies attached to a chromosome by a thin thread.
6. differences in degree and distribution of heterochromatic regions. Heterochromatin stains
darker than euchromatin, indicating tighter packing, and mainly consists of genetically inactive
repetitive DNA sequences.
HUMAN KARY0TYPE USING
GIEMSA STAINING
 KARTOTYPE OF PLANTS
 Different plant species have varying chromosome
numbers and structures, which can be depicted in their
karyotypes.
 For example
 Hexaploid wheat possesses 42 chromosomes derived
from its three ancestral genomes.
 The 21 pairs of chromosomes can be further divided
into seven groups of six chromosomes (one chromosome
pair being derived from each of the three ancestral
genomes), based on the similarity of their gene order.
 Since the number of chromosomes in hexaploid wheat is
42, the monoploid number will be 42/6=7. The haploid
(n) number is the number of chromosomes in a gamete.
For hexaploid wheat, the gamete will be triploid. The The karyotype of hexaploid wheat
haploid number of chromosomes =7x3=21. Triticum aestivum

 Asian cultivated rice (Oryza sativa L.) is a diploid

TYPES OF KARYOTYPES
Symmetrical Assymetrical
karyotype karyotype
1. Show larger difference 1. Show lesser difference
between smaller and larger between smaller and larger
chromosome in a set. chromosome in a set.
2. Have more acrocentric 2. Have more metacentric
chromosomes. chromosomes.
3. relatively advanced karyotype 3. relatively primitive
karyotype
Example- Ginkgo biloba,
flowering plants Example- Pinus
VARIATION IS OFTEN FOUND
IN KARYOTYPES
Between the sexes
between gametes and the rest of the body
between members of a population
(chromosome polymorphism)
in geographic speciation
in mosaics or otherwise abnormal individuals
PREPARING KARYOTYPES
Karyotypes are prepared from mitotic cells
that have been arrested in the metaphase or
prometaphase portion of the cell cycle,
when chromosomes assume their most
condensed conformations
1. The process of generating a karyotype begins with the
short-term culture of cells derived from a specimen.
2. 2. After a period of cell growth and multiplication, dividing
cells are arrested in metaphase by addition of colchicine,
which poisons the mitotic spindle.
3. 3. The cells are next treated with a hypotonic solution that
causes their nuclei to swell and the cells to burst.
4. 4. The nuclei are then treated with a chemical fixative,
dropped on a glass slide, and treated with various stains
that reveal structural features of the chromosomes.
5. Photographs of the chromosomes were taken
6. Chromosomes are cut out from the microphotograph
7. Lined up by size with their respective partners
Process of
karyotyping in
humans
IDEOGRAM
Diagrammatic representation of a
karyotype of a species
 SIGNIFICANCE OF HUMAN
KARYOTYPE
Provides the structural features of chromosome
Clinical cytologist can determine the genetic changes
Karyotype reveals the numerical anomalies (aneuploidy)
Trisomy at 21st chromosome (Down syndrome)
Trisomy at sex chromosome-XXY (Klinefelters syndrome)
 Monosomy at sex chromosome- XO (Turner syndrome)
Structural anomalies of the
chromosome:
Deletions
duplication,
Inversion
Translocations.
Karyotypic analysis can give
important diagnostic information in:
Sex determination
Detection of birth defects, genetic
disorders
ADVANTAGES OF
KARYOTYPES
 Karyotypes can reveal changes in chromosome number associated with aneuploid
conditions, such as trisomy 21 (Down syndrome).
 Careful analysis of karyotypes can also reveal more subtle structural changes, such as
chromosomal deletions, duplications, translocations, or inversions.
 karyotypes are becoming a source of diagnostic information for specific birth defects,
genetic disorders, and even cancers.
 Karyotypes of different species can be compared.
 Similarities in the karyotypes represent the evolutionary relationship.
 Karyotypes can be used to solve taxonomic disputes.
 Karyotype can indicate primitive and advanced features.
 Symmetric karyotype: - primitive
 Asymmetric karyotype: - advanced
 KARTOTYPE EVOLUTION
 Karyotype evolution refers to changes in the number, size, and
structure of chromosomes in a species over time.
 It involves alterations in the arrangement and composition of
chromosomes within an organism’s genome.
 These changes can occur due to various evolutionary processes
such as chromosomal rearrangements, gene duplications,
translocations, fusions, or fissions, which can contribute to genetic
diversity and species divergence.
 Understanding karyotype evolution helps in studying the
relationships between species and their evolutionary history.
KARYOTYPE EVOLUTION IN
PLANTS
Karyotype evolution in plants has occurred through various
mechanisms such as polyploidization, chromosomal
rearrangements, and structural changes. Some examples include:
Polyploidization: It’s a significant driver of karyotype evolution.
Polyploidy occurs when an organism gains extra sets of
chromosomes. Plants like wheat (hexaploid), cotton (tetraploid),
and some species of strawberries have undergone polyploidization,
leading to increased genetic diversity and adaptability.
Chromosomal rearrangements:Translocations, inversions, and
deletions can cause changes in the karyotype. Inversions, where a
segment of the chromosome breaks off and reattaches in the
opposite orientation, are observed in species like maize and
Arabidopsis thaliana.
Fusion or fission: These events involve the joining (fusion) or
splitting (fission) of chromosomes. Examples include changes in the
karyotypes of some legume species like soybeans and peas.
Genome duplication and reshuffling: It leads to altered karyotypes,
seen in various plant families such as Brassicaceae (mustard family)
with species like Arabidopsis and Brassica.
 These karyotypic changes often contribute to speciation, adaptation
to new environments, and the development of new traits in plants
 KARYOTYPE EVOLUTION IN
HUMANS
 Karyotype evolution in humans involves the fusion of two ancestral primate chromosomes,
believed to have occurred in the lineage leading to modern humans.
 In the karyotype of apes like chimpanzees and gorillas, there are 24 pairs of chromosomes,
whereas humans have 23 pairs. This difference is attributed to a fusion event where two
smaller chromosomes present in the common ancestor of humans and great apes fused
together to form human chromosome 2.
 The evidence for this fusion event lies in the structure of human chromosome 2. It has
distinctive features at its center, including telomere-like sequences (found at the ends of
chromosomes) within the chromosome, providing support for the theory that two ancestral
chromosomes fused end-to-end to form human chromosome 2.
 This fusion, among other genetic and chromosomal changes, has played a role in shaping the
human karyotype and is a notable event in human evolutionary history