Module 1 - Cytogenetics
Module 1 - Cytogenetics
Learning Objectives:
At the end of the module, you should be able to:
1. Discuss the branches of genetics
2. Explain the fundamentals of transmission and molecular genetics
Hippocrates (c.460 -375 BCE), known as the father of medicine, believed in the
inheritance of acquired, and to account to this, he devised the hypothesis known
as pangenesis.
Aristotle (384-322 BCE) emphasized the importance of blood in heredity. He
thought that the blood supplied generative material for building all parts of the
adult body and he reasoned that blood was the basis for passing on this
generative power to the next generation. (blood lines, blood ties).
17th and 18th centuries the idea of preformation using the newly developed
microscopes.
Jean-Baptiste Lamarck a French biologist invoked the idea of “the influence of
acquired characters” not as an explanation for heredity but as a model for
evolution.
Alfred Russel Wallace a British naturalist originally postulated the theory of
evolution by natural selection.
1900 – marked the “rediscovery of Mendel’s by Hugo de Vries, Carl Correns and
Erich Tschermark.
1915 – The basic principles of Mendelian Genetics had been applied to a wide
variety of organism. (Fruit fly)
1925 – Mendelian Model was widely studied.
Comes from the Latin GENESIS which means birth or more broadly, it is the
study of heredity.
Genetics
Is the study of genes, genetic variation, and heredity in living organism
It is generally considered a field of biology, but it interacts frequently with many of
the life sciences.
It is a strongly linked with the study of information systems
The study of heredity in general and of genes in particular.
Genetics forma one of the central pillars of biology and overlap
Cytology
The branch of biology concerned with the structure and function of plant and
animal cells
Cytogenetics
The study of inheritance in relation to the structure and function of chromosomes
Is a branch of genetics that is concerned with the study of the structure and
function of the cell, especially the chromosomes.
Is an exciting, dynamic field of study which analyzes the number and structure of
human and animal chromosomes
Changes that affect the number and / or structure of the chromosomes with
growth, development, and how the body functions.
The study of chromosomes and genomic structure, function, and variation and
their role in human disease and heredity.
a. Chromosomes analysis/karyotyping
b. Fluorescence in situ hybridization
c. Genomic microarray analysis
The Birth of Human Cytogenetics
1956: Joe Hin Tjio and Albert Levan count the full complement of 46 human
Chromosomes
Thomas Painter – 30 years after, the count of 48 chromosomes were studied.
1968 Caspersson et. al – differential staining of chromosomes produces a
recognizable banding pattern (chromosomal barcode) along the length of the
chromosomes. Chromosomes are related to differences in base pair
composition, gene density, repetitive elements, chromatin packaging but
molecular basis is not understood, greatly facilitates classification and recognition
of structural aberations.
1963 – chromosome 5 short arm partial deletion in Cri du Chat syndrome, D-
chromosome deletion in patient with bilateral retinoblastoma.
In the late 80’s introduction of FISH ( Fluorescence In-Situ Hybridization)
Modern Genetics
3 Main Branches
Transmission Genetics – the study of the passing of traits from one generation
to the next.
Molecular Genetics – the study of the chemical structure of genes and how they
operate at the molecular level.
Population Genetics – the study of the variation of genes between and within
population
Topic 2: Application of Genetics
In recent advances in molecular biology allow us to develop and apply the tools
and concepts of molecular genetics to the conservation of biological resources. Working
with the design and implement studies that provide genetic and genomic information for
a broad range of applications.