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CHROMOSOMES DEVELOPMENT
 Chromosomes
 “Chroma” means color
 “Soma” means thread
 Are structures that transmit
genetic information to next
generation.
 Long pieces of DNA formed in the
center of (nucleus) of the cell.
 First suggested by Heinrich
Wilhelm Gottfried von Waldeyer-
Hartz (1836-1921)
 NOTE: There 46 sets of chromosomes
in Human.
 Ploidy – number of sets of
chromosomes.
 n – Monoploidy/ Haploidy
 2n – Diploidy
 3n – Triploidy
 4n – Tetraploidy
 5n – Pentaploidy
 6n – Hexaploidy
 7n – Heptaploidy
 Euploid – whole set
 Haploid – sex cells
 Diploid – somatic cells
 Parts of Chromosome:
 Chromatid – two copies of the
same chromosome attached
together
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 P-arm – petite
 Q-arm – quadran
 Centromere – is the primary
constriction where the sister
chromtaids are attached
 Telomeres – are the DNA
sequences at the ends if
chromosomes.
– telomeres are
needed to ensure complete
replication of DNA : the end-
replication problem
 Telomerase – an RNA/ protein
hybrid enzyme whoch prevents
the chromosomes shortening
 Three (3) things to tell chromosomes
apart:
1. Chromosome Size
2. The position of Centromere
3. Characteristic Banding Patterns
of alternating “LIGHT”
(Euchromatin) and “DARK
BANDS”(Heterochromatin)
(caused by sataining the
chromosomes with dyes)
1. Chromosomes Size
o In contrast to other cell organelles,
the size of chromosomes shows a
remarkable variation depending
upon the stages of cell division.
o Therefore, chromosomes
measurements are generally
taken during mitotic metaphase.
o Interphase – thinnest and longest
o Prophase – in between
o Metaphase – very thick and short
- used in preparation
of DNA analysis
o Anaphase - smallest
2. The Position of Centromere
o Metacentric – centromere is in the
middle; divides into two arms of
approx. equal length
o Submetacentric – centromere is
towards the end; centromere
establishes one long arm and one
shor arm
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o Acrocentric – centromere is near  Heterogametic – male sex (XY)

the end; subterminal;intermediate  Chromosomes are clasified by A-G and
satellites on p-arm; pinches off Sex Chromosomes
only a small amount of material  A = 1-3
toward one end  B = 4-5
o Telocentric– centromere at the end  C = 6-12
3. Characteristic Banding Patterns  D = 13-15
 Note: DARK STAINING –  E = 16-18
Heterochromatin; LIGHT STAINING
 F = 19-20
- Euchromatin
 G = 21-22
o Q- Banding – Quinacrine stain
 Cytogenetics – visual study of
o G- Bading – Giemsa stain
chromosomes at microscopic level
o C- Banding – heterochromatin
 Ideogram – stylised form of karyotype
region which remains condensed
o R- Banding – reverse banding  ORDER OF NUMBERING:
o FISH (Fluorescene In Situ  ARM; RREGION; BAND; SUB-BAND
Hybridization) – used to identify  1P 2 2 .3
chromosomal abnormality  E.g. 1P22.3
o Spectral Karyotyping – probes  Array CGH (Comparative Genomic
specific color for end Hybridization) – numerical
o High Resolution Banding – less abnomalities
condensed region will be stained - measure a DNA copy
 Kinetochore – is the protein structure number of differences between a test
that assembles on the cenromere and and reference genome.
attach sister chromatids to itotic spindle;
that move chromosomes during mitosis
and meiosis.
 Karyotype – the complete set of
chromosomes in a spindle
- describes the number of
chromosomes;
- arranging the chromosome
in desending order with centromere in
the same straight line
 Types of Chromosomes
 Autosomes – paired
chromosomes with the same
length, shape, sentromere location
and genes
- any chromosome
other than a sex chromosome
- Determine size,
color, hair of a body
 Sex Chromosomes – members
of a pair of chromosomes that
differ between males and females
 Homogametic – female sex (XX)

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