INTRODUCTION TO CYTOGENETICS specific gene.

That means both alleles contribute

equally to the appearance of the trait. (YY or yy)
 Heterozygous genetype - • In contrast, contains two
What is Cytogenetics? different forms of a particular gene. (Yy)

- It is defined as the study of chromosomes, BASIS OF CYTOGENETICS

including their behavior, mechanics, and role in
- CHROMOSOME STRUCTURE
inheritance. - CHROMOSOME BEHAVIOR DURING CELL
- CYTOLOGY + GENETICS DIVISION
- GENETIC CONSEQUENCES OF
 “Cytology” - The medical and scientific CHROMOSOMMAL BEHAVIOR
study of cells. Cytology refers to a branch of
pathology, the medical specialty that deals BRIEF HISTORY OF CYTOGENETICS
with making diagnoses of diseases and
conditions through the examination of tissue
samples from the body.
 “Genetics” - study of heredity in general
and of genes in particular. Genetics forms
one of the central pillars of biology and
overlaps with many other areas, such as
agriculture, medicine, and biotechnology.
BASIC TERMS TO REMEMBER:

 Allele - is a term coined to describe a specific copy

of a gene. Each allele occupies a specific region on  CELL DOCTRINE:
the chromosome called a gene locus.  MATTHIAS SCHLEIDEN
 Gene - A part of an organism’s DNA that is passed  THEODOR SCHWANN
down from its parents and codes for a specific  RUDOLF VIRCHOW
function. It is the DNA sequences controlling our
“THE CELL IS THE FUNDAMENTAL UNIT OF
traits, are usually found in two copies in eukaryotic
STRUCTURE AND FUNCTION IN ALL LIVING
genomes; each copy (allele) is inherited from one
ORGANISMS”
parent.
 Dominant Trait – is a trait caused by having either “ALL FORMS OF LIFE ARE COMPOSED OF CELLS”
two dominant alleles or one dominant and one
“CELLS ARISE ONLY FROM PRE-EXISTING CELLS”
recessive allele. It is allele that is expressed.
 Recessive trait - is a trait that is expressed when an
organism has two recessive alleles, or forms of a
gene. The allele that is not expressed. UNIVERSALITY OF CELL DIVISION AS THE
 Chromosome - A chromosome is an organized CENTRAL PHENOMENON IN REPRODUCTION
package of DNA found in the nucleus of the cell.
Humans have 23 pairs of chromosomes--22 pairs of
numbered chromosomes, called autosomes, and one
pair of sex chromosomes, X and Y
 Phenotype - is used to describe a visible trait.
Phenotype can also be affected by the environment
in many real-life cases. CHROMOSOME THEORY OF INHERITANCE
 Genotype - Is used to describe an organism’s set of
alleles coding for each trait. Genotype determines
phenotype, an organism's observable features.
 Homozygous genotype - It means that the
organism’s genome has two identical alleles for a
 genetic material. He is credited for discovering the
carbohydrate component of both DNA and RNA
and how their components are connected, as well
 “THE CHROMOSOMES ARE THE PHYSICAL as the structure of nucleotides in 1919 (Ray 2008).
CARRIERS OF THE GENES”  Oswald Avery (1877-1955) devised an ingenious
 “THE BEHAVIOR OF THE CHROMOSOMES experiment to find out that it was DNA that
DURING MEIOSIS COULD EXPLAIN carried the vital information needed for protein
MENDELIAN PRINCIPLES”. expression in the next generation of cells
(O'Connor 2008).
CORRELATIONS BETWEEN MENDELIAN  In 1953, Francis Crick and his colleague James
FACTORS AND CHROMOSOMES Watson came up with a model for the structure of
DNA (Deoxyribonucleic acid) based off of X-ray
 Chromosomes exists in pairs
diffraction images.
 Mendelian factors exists in pairs
HISTORY TIMELINE
 1842: Wilhelm von Nageli, a Swiss botanist,
BRIEF HISTORY OF CYTOGENETICS
observed the plant cell.
 Carl Wilhelm von Nägeli (March 1817 – May  1866: Mendel’s research work published under the
1891) title of “experiments on plant hybridization.”
- He was a Swiss botanist. He studied cell  1869: Friedrich Miescher discovered nucleic acid.
division and pollination but became known  1888: Waldeyer identified the chromosome present
as the man who discouraged Gregor Mendel in the cell.
from further work on genetics.  1889: Richard Altmann purified DNA from the
- He first described thread-like structures in protein.
the nuclei of plant cells in the 1840s, and  1905: William Bateson coined the term “genetics”.
what he called “transitory cytoblasts” are  1908: discovery of Hardy-Weinberg’s law.
now known as chromosomes.  1910: Morgan T, explained that the genes are
- Later, in 1888, Waldeyer coined the term located on the chromosomes. Also, they
“chromosome” after staining techniques had experimented on Drosophila Melanogaster and
been developed to make them more determined the nature of sex-linked traits.
discernible (chromos = Greek for color;  1923: Griffith F, experimented on bacteria and
soma = Greek for body). postulated that DNA is the genetic material.
 Grigorii Andreevich Levitsky (1878)  1953: Watson and Crick given the structure of DNA.
- First studies on cytology dealt with 
mitochondria in 1922–1923, Levitsky FIELDS OF GENETICS
worked on the book “The Material Basis of
Heredity”.
- Levitsky introduced to karyology the term
karyotype, which is fundamental for
cytogenetics.
 Modern genetics began in 1900 with the
rediscovery of studies of the monk Gregor
Johann Mendel (1822- 1884).
- He was known as “father of genetics” who
formulated laws of inheritance by
experimenting garden pea.
- Mendel tracked the segregation of parental
genes and their appearance in the offspring
as dominant or recessive traits.
 Earlier in the 20th century, Russian biochemist
Phoebus Levene (1863-1940) made the initial
steps towards discovering the components of
 genetic methods, any mutation can be characterized
which are involved in the development of the
Molecular Genetics
disease.
 Is an interdisciplinary sub-branch of genetics - We can study.
dealing with the study of the structure and function  ✓The inheritance pattern of disease.
of DNA as well as genes (at a molecular level)  ✓The severity of the disease.
using techniques such as Polymerase chain  ✓Possibility of inheritance in the
reaction and DNA sequencing. consecutive generation
 Using molecular genetics techniques one can detect
pathogenic mutations, SNPs (single nucleotide PREIMPLANTATION GENETICS
polymorphism), minor deletion or duplication at a - It is characterizing or profiling the genetic
DNA level. Furthermore, those techniques can composition of the embryo before implantation.
study gene expressions too. - Preimplantation genetic techniques are powerful
POLYMERASE CHAIN REACTION enough to screen the genetic profile of oocyte or
sperm cells before fertilization.
- I s a p r o c e- s major
The s applicationi of preimplantation
n w
genetic his i
to screen high-risk pregnancies.

of a DNA segment of our interest in vitro. The

process is temperaturedependent, divided into three
steps.
CYTOGENETICS
- It is a sub-branch of genetics including the study of Clinical Genetics
inheritance through chromosomal analysis utilizing
techniques such as: - It involves the study of disease, finding the root of
 Karyotyping the disease, its adverse effects, and its inheritance
 chromosomal staining and chromosomal pattern.
banding Plant Genetics
 Fluorescent in-situ Hybridization
- Structural and numerical chromosomal - The branch of genetics deals with the study of
abnormalities can be screened using cytogenetic genetic variations and chromosomal abnormalities
techniques. in plants.
- It includes the study of plant genomes and
HUMAN GENETICS genetically modified plant species using the
- The branch of genetics comprises the study of techniques such as karyotyping, PCR, and DNA
genetic alterations and its role in the development of sequencing. Genetically modified plant species
disease especially in humans. have tremendous economical value.
- Using the cytogenetic, molecular genetics, Microbial Genetics
phylogenetic, population genetics, and clinical
 - • It is an applied branch of genetics includes the - The Hardy-Weinberg’s equation is the basis of
study of the genes, genotypes ad gene expression the population genetics, H-W equation: P2 + 2pq +
of microorganism for various genetic engineering q2 = 1
applications. The study includes genetic analysis
Epigenetics
of bacteria, viruses, archaea, protozoa and some
fungi. - Put simply, epigenetics is the study of gene
- The Novel coronavirus COVID-19 infecting expression.
people in recent times and causing respiratory - It investigates gene expression profiles but not gene
problems is detected accurately using the RT-PCR mutations.
technique.
Biochemical Genetics
Metagenomics
- The branch of genetics studying the chemistry of
- The branch of genetics that deals with the study DNA, gene, chromosome, RNA and related
and identification of different microorganisms by biomolecules.
processing the environmental samples using
modern genetics techniques. Physiological Genetics
- Shotgun sequencing and PCR direct sequencing - Deals with the study of physiological
are commonly used for metagenomic analysis. characteristics such as sex differentiation and sex
- Shotgun sequencing is a method involves determination, blood group factor and sickle cell
breaking the genome into a collection of small anemia like physiological conditions.
DNA fragments that are sequenced individually.
- A powerful sequencing tool can even identify any Quantitative Genetics
unknown organism or new microbe or strains of
- It is actually a branch of population genetics that
microorganisms.
studies the continuously varying phenotypes. The
correlation between phenotype and related
genotype is the basis for quantitative genetics.
Conservation genetics
- It is a subfield of population genetics in which,
using the genetic tools and by understanding the
dynamics of genes and their expression profile,
researchers study the endangered species of plants,
animals and other organisms.
Behavioral Genetics
- Studying the behavioral phenotypes of an organism
at the genetic level is conducted in behavioral
genetics. The behavior of an organism is influenced
by the interaction between the environment and
Population Genetics genetic composition.
- It includes the study of genetic differences within
and between the population or individual.
- By doing mathematical calculations, statistical
analysis, fieldwork and genetic analysis one can
calculate the genetic frequency, allelic frequency,
and other factors with respect to the population.
- We can also determine how natural selection,
mutation, genetic drift, and gene flow can influence
the phenotype and genotype in the population.