HUMAN

CHROMOSOME &
KARYOTYPING
M. Mansyur Romi
 CHROMOSOME
The highest order of DNA coiling
Each species has a characteristic number
and size of chromosomes, known as
karyotype.
The normal number of Xsomes in a nucleus:
diploid (2n)
During gametogenesos 2n is halved one
of eachpair = haploid (n)
Coiling of
chromosomal/
nuclear DNA
 CHROMOSOME

Duplicate themselves before the onset

of cell division
Appear during metaphase
After replication each Xsome consist of
two identical copies: sister chromatids
juncside side by side but still connected
at the centromer.
 CHROMOSOME
Structure:
Centromer (primary constriction)
Long arm (p)
Short arm (q)
Banding patterns:
Heterochromatin: highly condensed
Contains four known genes, its
function is not well understood
Flanked to centomers
Euchromatin: more lightly
Contains most of the genes
Human kariotype 46,XY
 Human Genome
23 chromosomes
60,000 70,000 genes
3 x 109 b.p.
3,000 c Morgans

1 Chromosome :
2,000 5,000 genes
1,3 x 108 b.p.
130 cM
1 Chromosomal microband
50 100 genes
3x 106
3 cM

1/10 Chromosomal microband

~230 x the length of one globin gene
1/6 x the length of the duchenne
locus
 TURNER SYNDROME
Karyotipe 45, X
Diidentifikasi pertama kali tahun 1928
oleh Dr. Henry H Turner
Insiden 1/4000 bayi lahir hidup
perempuan
Etiologi : Tidak adanya kromosom seks
paternal (70%)
Biasanya lethal dalam uterus namun
kompatibel dan dapat bertahan setelah
kelahiran (99% abortus spontan)
 Karyotype Turner

Macam karyotipe
45, X 50%
46, X, i(Xq) 15%
45, X / 46, XX mosaik 15%
45, X / 46, X, i(Xq) mosaik
~5%
45, X, abnormalitas lain ~5%
 Gambaran Klinis Turner
Perawakan pendek (rata2 55 inci~137 cm)
Kelainan Kardiovaskular, penyebab
tertinggi
kematian
IQ normal atau diatas ratarata
Terdapat disgenesis gonada (ovarian
dysgenesis)
 KLINEFELTER SYNDROME
Karyotipe 47, XXY
Variant : 48, XXYY ; 48, XXXY ; 49, XXXXY
Etiologi : error pada :
Paternal Meiosis I
Maternal Meiosis I ~ usia ibu
Maternal Meiosis II
Post zigotic Mitotic ~ Mosaicism
Karena kegagalan rekombinasi Xp / Yp pada
pseudoautosomal region
Insiden : 1/1000 bayi laki-laki lahir hidup
Merupakan kelainan kromosom seks pada manusia yang
pertama kali dilaporkan
Karyotype Klinefelter
Kelainan2 pada Klinefelter Syndrome
IQ rata-rata 85 90
Anggota gerak yang panjang dan kurus
Pubertas usia normal namun testis kecil
(< 2,5 cm)
Hampir selalu infertil karena kegagalan
perkembangan Germ Cell
Kadang-kadang didapatkan ginekomasti
Penurunan produksi testosteron
Juga didapatkan kesulitan belajar,
membaca, bahasa, poor social
adjustment
Karyotipe 47, XYY
XYY Syndrome
IQ rata-rata 10-15 point
dibawah rata2
Hiperaktif
Agresif atau sifat
psikopatologi bukan gambaran
umumnya
Gigi yang besar2, dahi
menonjol, telinga panjang,
jarijari relatif panjang
Fertilitas normal, pubertas
biasanya terlambat sampai 6
bulan
Genetic material
 Gene Mapping
Assignment of a locus to a specific
chromosome and / or
Determining the sequence of genes and
their relative distance from one another on
a specific chromosome
Two types of map:
physical map
genetic or linkage map
 GENE STRUCTURE
Promoter: the sequence elements
located 5 to the gene, which fix
the site of initiation of
transcription and control mRNA
quantity and sometimes tissue
specificity

Exon: the transcribed regions of

the gene that are present in mature
mRNA and usually contain coding
information.
 GENE STRUCTURE
Intron: a segment of a gene that is
initially transcribed into RNA but is
then removed from the primary
transcript by splicing together the
exon sequences on either side of it.

Enhancers: DNA sequences that act

in CIS to increase transcription of
a nearby gene. These can act in
either orientation 5 or 3 to the
gene and may act at considerable
distance from the gene.
 CHROMOSOME
Xsomes of eukaryotes consist of:
DNA
Histone proteins
both are constant and form nucleosome

Nonhistone proteins
RNA
both vary with the metabolic activity of the
cells