Cytogenetics??

Cytology + Genetics
 Cytogenetics??

Deals with the study of heredity through the methods of

cytology and genetics

The science is concerned with the structure, number,

function, and movement of chromosomes and numerous
variations of these properties as they relate to the
transmission, recombination, and expression of the genes.
It also deals with non-chromosomal heredity factors
Why study chromosomes ??
Early studies of chromosomes

 German Zoologist Anton Schneider (1873) – process of

mitosis and involvement of ‘chromatic nuclear figure’
(chromosome)
Before then – cells and nuclei simply pinched in half to
divide
 Strasburger (1875) and Flemming (1879-82) – clear and
detailed description of mitotic chromosomes in plants
and animals, respectively
Foundation of modern studies of chromosomes
Early studies of chromosomes
 Flemming – Lampbrush chromosomes
 Balbiani (1880) – Polytene
Chromosomes

 German professor Waldeyer (1888) –

introduced the term ‘chromosome’

From the very earliest study of

chromosomes, it became clear that
chromosomes are involved in inheritance
Chromosome Theory of Inheritance
Weismann (1887)
 The nuclear substance controls the form and function of
every cell, and divides at mitosis to give equal products
 Egg must lose half their nuclear substance before
fertilization, and this must be replaced exactly by nuclear
substance of sperm
 Because sexual reproduction depends on adding together the
egg and sperm nuclei in every generation, there must be
halving of the nuclear substance in both male and female
germ cells
 Sexual reproduction is a means of producing variability
between individuals
Origin of Genetics & chromosomes
Theory of Inheritance
 Mendel – laws of inheritance – basis of genetics
complete ignorance of the physical mechanism involved
behaviour of chromosomes at cell division – exactly what
was required for distribution of hereditary factors (genes) to
daughter cells
Many genes on a limited number of chromosomes –
phenomenon of linkage and crossing over
 Relationship between the genetical phenomenon and
behaviour of chromosome was well established in early
years of 20th century
Chemical nature of genes & chromosomes

 Miescher (1868) – isolated impure form of DNA –

NUCLEIN – beginning of the study of nucleic acid
 Flemming speculated that ‘chromatin’ might be the
same as nuclein
 Kossel discovered HISTONES
it was held that genes were made of proteins – due to
limited information of DNA composition
 Chargaff’s work – four nucleotide were not present in
equimolar proportion
 Watson and Crick (1953) – DNA model
 Position of Chromosomes in age of
Molecular Biology

 Watson and Crick Model of DNA structure – beginning

of the era of molecular biology
Chromosome = DNA + histones + non-histone proteins
 Chromosome remains important because:
 They carry the genes
 Their behaviour determines the mechanism of
inheritance
 Position of Chromosomes in age of
Molecular Biology

 Distribution of genes to the daughter cells at mitosis and

meiosis
 Genetic linkage is a direct result of numerous genes
being contained in the same chromosome
 Crossing over and re-assortment of genes at meiosis is a
chromosomal phenomenon
 Genetic variation is provided by the fusion of egg and
sperm nuclei at fertilization to produce a diploid zygote
containing two sets of chromosomes
 Position of Chromosomes in age of
Molecular Biology

 Behavior of DNA and genes is greatly constrained by

the fact that they are incorporated into chromosomes
a. Associated proteins control and catalyze DNA
replication and transcription
b. Gene experssion is controlled by modification to
histones
 Position of gene within chromosome can affect its
behavior – heterochromatin and euchromatin
 Position of Chromosomes in age of
Molecular Biology

“C – Value Paradox”
 Amount of DNA is not necessarily related to the complexity
of the organisms
 DNA is greatly in excess of the amount required to provide
all the genes needed
 The extra DNA is just ‘JUNK’
 Extra DNA may have some ‘structural functions’

Chromosomes are more than just strings of genes

 Position of Chromosomes in age of
Molecular Biology

 Errors in chromosome behavior are important cause of

ill-health
 Down’s syndrome
 Klinefelter syndrome
 Possibility to create artificial chromosomes and using
them to treat genetic diseases and other studies
Down’s syndrome or mongolism Klinefelters Syndrome
Why study chromosomes ??

Because

their behavior at fertilization and

cell division determines the nature
of inheritance, and their
organization controls the activity of
the genes
 Don’t wait for the
PERFECT MOMENT
Take the moment and
make it
PERFECT