Cytogenetics

Life Cycle
Chromosomes

► Chromosomes are the structures on which organism’s genes are held.

► These genes are the body’s instructions that control the development
and regulation of all organisms.
► These genes are found in double stranded DNA lengths coiled to form
chromosomes.
Chromosomes

In humans there are;

►  46 chromosomes present arranged in
23 pairs (this number varies greatly
between species)
►  There are 22 autosomal pairs (labeled
1-22) and 
► 1 pair of sex chromosomes that
determine our sex, either XX (female)
or XY (male)
Chromosomes

Chromosomes all have the same basic linear structure including

the telomere (chromosome cap) and centromere which is involved
in maneuvering  the chromosome in cell division.
 Chromosomes

► In humans, all chromosomes are rod shaped, have one

centromere and can be classified according to the position of
the centromere.
► There are three main classifications of chromosomes due to
the position of the centromere; metacentric,
submetacentric, and acrocentric as depicted below.
 Chromosomes
Chromosomes are further divided into
►  A short arm p (meaning petite) and long arm q  (meaning not p)
Chromosomes
General Observations of Chromosomes:
► All somatic cells derived from members of the
same species contain an identical number of
chromosomes
► Nearly all chromosomes exist in pairs (homologous
chromosomes)

► On the basis of size, centromere placement,

human autosomal chromosomes are divided into
seven groups:
1-3, 4-5, 6-12, 13-15, 16-18, 19-20 & 21-22.
Karyotype
► The chromosome complement of a cell or an
individual (the number & appearance of
chromosomes in the nucleus)
► This term is often used to refer to the
arrangement of metaphase chromosomes in a
sequence according to length and position of the
centromere.
► This can be photographed during mitosis and
rearranged in pairs to make a picture referred to
as idiogram.
IDIOGRAM OF A WOMAN

IDIOGRAM OF A MAN
 Meiosis Mitosis
A type of cellular reproduction in which A process of asexual reproduction in which
the number of chromosomes are reduced the cell divides in two producing a replica,
Definition by half through the separation of with an equal number of chromosomes in
homologous chromosomes, producing 4 each resulting diploid cell.
haploid cells.
Sexual reproduction Cellular Reproduction & general growth
Function and repair of the body
Type of Reproduction Sexual Asexual
Occurs in Humans, animals, plants, fungi All organisms
Genetically Different Identical
Crossing Over Yes, mixing of chromosomes can occur. No, crossing over cannot occur.
Pairing of Homologs Yes No
Number of Divisions 2 1
Number of Daughter 4 haploid cells 2 diploid cells
Cells produced
Chromosome Number Reduced by half Remains the same
Interphase, Prophase I, Metaphase I, Interphase, Prophase, Metaphase,
Anaphase I, Telophase I, Prophase II, Anaphase and Telophase
Steps
Metaphase II, Anaphase II and Telophase
II.
Karyokinesis Occurs in Interphase I Occurs in Interphase
Cytokinesis Occurs in Telophase I & Telophase II Occurs in Telophase
The centromeres do not separate during The centromeres split during Anaphase
Centromeres Split anaphase I, but during anaphase II
Sex cells only: Female egg cells or Male Makes everything other than sex cells
Creates
sperm cells
Discovered by Oscar Hertwig Walther Flemming
MITOSIS
Cell cycle control
Cell cycle control
The importance of cell cycle control and these
checkpoints can be demonstrated by considering
what happens when this regulatory system is
impaired.

If, for example, a cell that has incurred damage to its

DNA is allowed to proceed through the cell cycle,
the damage may lead to uncontrolled cell division
– precisely a definition of a cancerous cell ( Klug &
Cummings).
Sex Determination

Sex can be controlled by:

▪ Ploidy of an individual
▪ Allelic mechanisms in which sex is
determined by a single allele or multiple
alleles
▪ Environmental factors
▪ Sex chromosomes
Sex Determination
Four types of Chromosomal Sex-determining Mechanism Exist

► XY – humans, mammals
► ZW – birds & some insects
► XO - insects
► Compound Chromosome
Sex Determination
XY System

❑ Within the normal 23 pairs of human chromosomes, one

pair was shown to vary in males & females
❑ These two chromosomes were designated the X & Y
chromosomes
❑ The human females has two X chromosomes
❑ The human male has one X & one Y chromosome
 Sex Determination
Klinefelter Syndrome

► Have more than one X chromosome

► Most often they have an XXY complement in addtion to 44
autosomes
► Designated as 47,XXY
 Sex Determination

IDIOGRAM OF A MALE

WITH KLINEFELTER
SYNDROME
Sex Determination

KLINEFELTER SYNDROME
Sex Determination
Turner Syndrome

► Often monosomic and have only 45 chromosomes;

including just a single X chromosome
► Can result from karyotypes other than 45,X, including
individuals called mosiacs whose somatic cells display
two diffferent cell lines, each exhibiting different
karyotype
► Designated as 45,X
 Sex Determination

IDIOGRAM OF A FEMALE

WITH TURNER’S SYNDROME

Sex Determination

TURNER’S SYNDROME
Sex Determination
47,XXX
► Results in female differentiation
► Highly variable in expression
► Frequently women are perfectly normal
► The presence of additional X chromosome appears to
disrupt the delicate balance of genetic information
essential to female development
► In other cases, underdeveloped secondary sex
characteristics, sterility, and mental retardation can
occur
Sex Determination
Sex Determination
47,XYY
► Only deviation from diploidy in the presence of an
additional Y chromosome in an otherwise normal human
karyotype
Sex Determination
 Sexual Differentiation in Humans
5th week of gestation
► Gonadal primordia arise as a pair of ridges
associated with each embryonic kidney
► Primordial germ cells migrate to this ridges,
wherein outer cortex and inner medulla form
► CORTEX is capable developing into an ovary
► MEDULLA may develop into an testis
► Two sets of undifferentiated male (Wolffian) and
female (Mullerian) ducts in each embryo

7th week of gestation

► If the cells of the genital ridge have the XY
constitution the medullary region develops into a
testis
► In the absence of the Y chromosome, no male
development occurs, and the cortex of the genital
ridge subsequently forms ovarian tissue
Sexual Differentiation in Humans
12th week of gestation

► In the absence of male development, the oogenia within

the ovaries begin meiosis and primary oocytes can be
detected

25th week of gestation

► All oocytes become arrested in meiosis and remain dormant

until puberty is reached some 10-15 years later
► In males primary spermatocytes are not produced until
puberty is reached
 Y chromosome
► On both ends of the chromosomes
present are so-called
psuedoautosomal regions (PARS)
that share homology with the X
chromosome and synapse and
recombine with it during meiosis
► The remainder of the chromosome
is referred to as NRY, the
nonrecombining region of the Y
• Carries genetic information absent
from the X that controls male
sexual development
 Y chromosome
► Some region of the Y
chromosome encodes a gene
product that somehow triggers
the undifferentiated gonadal
tissue of the embryo to form
testes
► Gene called SRY ( sex
determining region Y) that
encodes TDF (testis determining
factor) is found in the short arm
of Y chromosome
X chromosome
► The presence of two X chromosomes in normal
human females and one X in normal human males
is unique compared with the equal numbers of
autosomes present in the cells of both sexes
► It is possible to speculate that this disparity should
create a genetic dosage problem.
Barr bodies
► Sex chromatin body
► Inactivated X chromosome
► Susumo Ohno was the first to suggest that the Barr
body arises from one of the two X chromosomes
► Provides a mechanism for dosage compensation
► If one of the two X chromosomes is inactive in the
cells of females the dosage of genetic information
that can be expressed in males and females is
equivalent.
Lyon Hypothesis
► Inactivation of X chromosomes occur randomly in
somatic cells at a point early in embryonic
development and once inactivation has occurred,
all progeny cells that have the same X
chromosome is inactivated.
Proof of Lyon Hypothesis
► Direct proof came when cytological analysis identified
the Barr body in normal females as an X chromosome
► Genetic evidence:
► Females heterozygous for a locus on the X
chromosome show a unique pattern of phenotypic
expression
► It is now known that in humans the X chromosome is
inactivated in a given cell. From that point on, the same
X remains a Barr body for future cell generations.
Pedigree Analysis
Human Pedigree
► The simplest way to study the pattern of
a specific phenotype is to construct a
family tree that shows the phenotype of
the trait in question for each member
► Family tree or pedigree.
Pedigree Analysis
Pedigree Analysis
Symbol Used in Constructing a Family Tree or Pedigree
Pedigree Analysis
The expected patterns for the various types of inheritance
in pedigrees can be summarized in the following
categories:

► Autosomal Recessive Inheritance

► Autosomal Dominant Inheritance
► Sex-linked Recessive Inheritance
► Sex-linked Dominant Inheritance
Pedigree Analysis
Dominant Recessive

❑ Do not skip ❑ Often skips

generation generation
❑ Equal distribution ❑ Equal distribution
Autosomal of affected of affected
individuals among individuals among
sexes sexes

❑ Do not skip ❑ Often skips

generation generation
❑ Most affected ❑ Most affected
Sex - Linked individuals are individuals are
female male
Nomenclature
► Total number of chromosome is given first
► Followed by the description of the sex chromosome
► Description of autosomes if some autosomal anomaly is evident

► Normal human chromosomal complement of female – 46,XX

► Normal human chromosomal complement of male – 46,XY

► Female with a single X chromosome - 45,X

► Male with an extra X chromosome – 47,XXY

 Nomenclature
⦿ Since all the autosomes are numbered, we describe their changes by
referring to their addition (+) or deletion (-)
◼ Female with trisomy 21 – 47,XX +21
⦿ Short arm of a chromosome is designated p,
the longer arm q.
⦿ When a change in part of chromosomes
occurs, a (+) after the arm indicates an
increase in length of that arm, whereas (-)
indicates a decrease in its length
► Translocation (t) in which part of the short arm of
9 is transferred to the short arm of 18 –
46,XX,t(9p-;18p+)
► Semicolon indicates that both chromosomes
kept their centromeres
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