MLS 2104 - Cytogenetics detail the chromosomal movements in the

Module 1 process of mitosis

 1869 — Friedrich Miescher identified the
Introduction to Cytogenetics “nuclein” by isolating a molecule from a cell
nucleus that would later become known as
Learning outcomes DNA
 In 1905, genetics became a formal branch of
At the end of this module, the learner should have biology when William Bateson coined the
been able to: word “genetics” for the first time. Along with
1. identify correctly the key figures who contributed to Reginald Punnett, they made significant
the development of the science of genetics. findings on genetic linkage.
2. define comprehensively what is Cytogenetics.  In 1910, Thomas Hunt Morgan did the
3. discuss comprehensively the different same experiment as Mendel’s using the fruit
technologies employed in cytogenetics. fly Drosophila melanogaster.
4. discuss concisely the applications and importance  In 1944, the experiment by Avery, MacLeod,
of Cytogenetics to medicine and science research. and McCarty on the pneumococci revealed
the role of DNA as the mediator of heredity.
 Later confirmed by Alfred Hershey and
Content
Martha Chase in 1952 in their bacteriophage
1. History and Development of Genetics and labelling experiment
Cytogenetics
 Rosalind Franklin and Maurice Wilkins in
2. The Science of Cytogenetics 1952 used X-ray diffraction to deduce the
2.1. Karyotyping
overall structure of the DNA.
2.2. Fluorescent in-situ hybridization( FISH)
2.3. DNA Microarray Analysis
2.4. Applications of Cytogenetics

 History and Development of Genetics and

Cytogenetics

Genetics - branch of biology that deals with the study

of heredity, how organisms pass on information in
their genes to create new generations of the same
species, or variations of the original

 10,000-8000 BC - people started to

domesticate animals and cultivate crops.
 Aristotle - suggested that the physical
characteristics of organisms are stored in the
male semen which interacts with the female
menstrual blood to form new organisms
 Charles Darwin proposed the Theory of
Pangenesis in 1868 which states that each  James Watson and Francis Crick,
part of the body continually emitted its own proposed the double helix structure of DNA
type of small organic particles called  In 1986, the Polymerase Chain Reaction
gemmules (PCR) was developed by Fred Sanger.
 Gregor Mendel- Father of  In 1996 Dolly the
Modern Genetics. sheep was born;
Credited for his work on first ever cloned
the pea plant (Pisum animal from an
sativum) his findings adult somatic cell
became the foundation of  In 2000, the
modern day genetics Drosophila
 Karl Wilhelm von Nagelli – discovered genome was
chromosomes in plant cells in 1842 competed.
 Walther Flemming described chromosomes  In 2001, CC the cat was the first pet to be
using salamander in 1879. He was the first to cloned

1 COLLEGE OF MEDICAL LABORATORY SCIENCE - CENTRAL PHILIPPINE UNIVERSITY

  Used to detect and localize the presence or
absence of specific DNA sequences in the
chromosomes to determine:
– developmental disability in infants
– Identify pathogens that do not grow
well in lab conditions
– Infer evolutionary relationships

 In 2003 the Human Genome Project (HGP)

was essentially completed (the sequence of
the last remaining chromosome was
published in the journal Nature in 2006). It is
the world’s biggest biological collaborative
research project that aimed to map the base
pairs in the human DNA.

2. The Science of Cytogenetics

Cytogenetics is a branch of genetics that studies the

function of the cell, specifically chromosomes, in the
process of inheritance.

2.1. Karyotyping 2.3. DNA Microarray Analysis

 Refers to the routine analysis of  Makes use of a DNA microarray or DNA chip
chromosomes at the metaphase stage which which is a collection of microscopic DNA
 Banded by trypsin followed by stains such as spots attached to a solid surface.
Giemsa, Leishman or a combination of two.  This technology is used to measure
 By Giemsa Staining, chromosomes exhibit expression levels of large numbers of genes.
transverse bands called G-bands rich in
Adenine and Tyhmine. It is especially useful 2.4. Applications of Cytogenetics
in creating a karyogram.
 In a karyogram aka ideogram,  Cytogenetics remains the gold standard in
chromosomes are arranged in pairs, ordered determining any abnormalities in the fetus
by size and position of centromere for
chromosomes of the same size 2.4.1. Constitutional Cytogenetics

 For diagnosis of heritable germline genetic

abnormalities in children, adults, pregnancy,
and fetal loss
 Indications:
In adolescent, adult sexual development and
fertility
 Amenorrhea, primary or secondary
ovarian failure, premature menopause
 Azoospermia, oligospermia,
hypogonadism
 History of infertility or spontaneous
abortions
2.2. Fluorescent In-situ Hybridization (FISH)
 Birth of a child with a chromosomal
abnormality
 Uses fluorescent probes that attaches to
 Tissues studied: Peripheral blood
specific areas in the chromosome.

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 In Prenatal Development
• Abnormal maternal serum screening (first
or second trimester)
• Abnormal cell‐free DNA testing (cfDNA),
non‐invasive prenatal testing
(NIPT)/screening (NIPS)
• Abnormal ultrasound findings: cystic
hygromas/hydrops, cardiac defects, other
malformations, IUGR, etc.
• Advanced maternal age (AMA), generally
≥ 35 yrs
• Parental or familial
chromosome/genomic abnormality
• Fetal or neonatal demise (products of
conception, POC)
• Tissues studied: Amniotic fluid, chorionic
villus sampling, fetal tissues

2.4.2. Cancer Cytogenetics

 For detection of acquired or somatic genetic
abnormalities for the diagnosis, prognosis,
therapy, and/or monitoring of many types of
cancer, especially those of hematologic type.
 Indications:
Hematologic oncology
• Myeloid diseases: AML, CML, MDS,
MPNs
• Lymphoid diseases: ALL, CLL, NHL,
PCNs/MM
Bone marrow transplant
Other areas of oncology (solid tumors)
Tissues studied: Bone marrow, peripheral
blood, lymph nodes, solid tumor, pleural fluid,
spinal fluid

References

Andersen, E. (2020) Introduction to cytogenetics

[PowerPoint Slides].
https://arup.utah.edu/education/andersen-
introCyto1-2020.php/

Guerrero, J.J., Imperial, J., Membreve, D.M. (2016).

Principles of cytogenetics Manila: Educational
Publishing House (pp. 1-15)

Lewis, Ricki. (2017). Human genetics : concepts and

applications. Boston :McGraw-Hill Higher Education
(pp. 2-10)

3 COLLEGE OF MEDICAL LABORATORY SCIENCE - CENTRAL PHILIPPINE UNIVERSITY