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Lecture 2 - Cytogenetics

Cytogenetics is the study of chromosomes and genomic structure through the visualization and analysis of chromosomes, with the objectives of understanding their structure, function, role in human disease and heredity, as well as techniques like karyotyping which involves identifying chromosomes based on attributes like size, centromere position, and banding patterns which produce unique profiles for identifying each chromosome pair. The field has a history dating back to the 1920s and advances like the discovery of DNA structure, development of techniques like fluorescence in situ hybridization (FISH) and array comparative genomic hybridization (aCGH), and use of microarrays have furthered the understanding of chromosomal

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294 views19 pages

Lecture 2 - Cytogenetics

Cytogenetics is the study of chromosomes and genomic structure through the visualization and analysis of chromosomes, with the objectives of understanding their structure, function, role in human disease and heredity, as well as techniques like karyotyping which involves identifying chromosomes based on attributes like size, centromere position, and banding patterns which produce unique profiles for identifying each chromosome pair. The field has a history dating back to the 1920s and advances like the discovery of DNA structure, development of techniques like fluorescence in situ hybridization (FISH) and array comparative genomic hybridization (aCGH), and use of microarrays have furthered the understanding of chromosomal

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Husssain
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CYTOGENETICS

MLS 327- LECTURE 2


OBJECTIVES

• What is cytogenetics
• DNA structure
• Karyotyping
• Chromosome identification
CYTOGENETICS
The art of recognition of the various chromosomes
A branch of genetics that is concerned with the study of the
structure and function of the cell through the visualisation and
analysis of chromosomes. 

The study of chromosomes and genomic structure, function, and


variation and their role in human disease and heredity
HISTORY

TS Painter Jerome FISH


Lejeune

1923 1956 1959 1969 1980 2001 201


Tjlo and Caspersson Array CGH 0
Microarrays
Levan
FOR
• Postnatal, childhood growth and development

• Adolescent, adult sexual development and fertility

• Prenatal
DNA ORGANIZATION

•Chromosomes are packaged by


proteins into a condensed structure
called chromatin allowing the very
long DNA molecules to fit into the cell
nucleus.
Chromatin

Heterochroma
Euchromatin tin

Constitutiv
Facultative
e
CHROMOSOME STRUCTURE
Telomere

P arm
1. The length of each
chromosome. Centromer
2. The arm ratio of the e
chromosomes (length of the
longer arm relative to the
shorter arm)

q arm
3. The position of centromere
which is a major character
for each chromosome

Telomere
almost the centromer by far centromere is
centromere at e tilted to centromere positioned at
the middle of the one side of tilted to one its end,
chromosome the side of the creating one
chromoso chromosome chromosome
me arm

• The satellites represent short fragments of heterochromatin at the end of


chromosome, separated by secondary constriction.
Metacentric
Submetacentric
Acrocentric
Sattelite
KARYOTYPE
•A karyotype is the number
and appearance
of chromosomes in the nucleus of
cell
•the complete set of chromosomes
in a species, or an individual
organism.
•describe the 
chromosome count of an organis
m
 and what these chromosomes
look like under a light microscope
A: 1 – 3 [large metacentric]
B: 4 & 5 [large submetacentric]
C: 6 – 12 & X [medium
submetacentric]
D: 13 – 15 [medium acrocentric]
E: 16 – 18 [short submetacentric]
F: 19 & 20 (short metacentric)
G: 21 & 22 (and Y): [short acrocentric]
BANDING
• GC and AT rich regions
• Constitutive heterochromatin region
IDENTIFYING CHROMOSOMES

Size
• Easiest way

Banding pattern
• Size and location of bands
makes unique pairs
Centromere position
[the short arm of
chromosome3,
region 2, band 2]

[the short arm of


chromosome3,
region 2, band 2,
Sub-band 1]
Cytogenetic banding nomenclature
Some banding terms definitions and remarks

egions: Chromosomal regions are areas delimited by chromosomal hallmarks

hromosomal Hallmarks: Consistent and distinct morphological features that are used to identi

ach chromosome (includes: end of chromosome arms, centromere and certain bands).

ome chromosomes have only a single region per chromosome arm (like chromosome 19, 20, 22

Y chromosome); other chromosomes have region ranges: 1-4 per arm.

and: an area of the chromosome clearly distinguishable from adjacent parts with darker or lighte

taining intensity.

ach region consists of several bands or a single band


READING LIST

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