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HUMANHUMANKARYOTYPEKARYOTYPE

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DNA CONDENSATIONDNA CONDENSATION

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CHROMOSOME MORPHOLOGYCHROMOSOME MORPHOLOGY

METACENTRICMETACENTRIC

SUBMETACENTRICSUBMETACENTRIC

AKROCENTRICAKROCENTRIC

SISTER CHROMATIDS

SHORT ARMS (p)

LONG ARMS (q)

TELOMERE

CENTROMERE

TELOMERE

SATELLITES

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SAMPLES FORSAMPLES FOR

CHROMOSOMAL ANALYSISCHROMOSOMAL ANALYSISPRENATAL DG.:PRENATAL DG.:

• amniotic fluid

(amniocytes)

• fetal blood

• chorionic villi

∼∼∼∼

• umbilical cord andother embryonalor fetal tissues

POSTNATAL DG.:POSTNATAL DG.:

• peripheral blood

(lymphocytes)

• bone marrow

• skin (fibroblasts)

• carcinoma samples• other tissues

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CYTOGENETIC ANALYSISCYTOGENETIC ANALYSIS

Venous bloodwith heparine

Add phytohaemagglutinin

and culture medium

Culture at 37°°°°C

for 72 hours

Add colchicine

Hypotonic

saline Fixation

Spread cell suspension

onto slide by dropping

Digest with trypsin

and stain with Giemsa

Analyse metaphaseKaryotype

Peripheral bloodPeripheral blood

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HUMAN KARYOTYPEHUMAN KARYOTYPE• 7 groups - depending on the lenght and morphology• 22 pairs of homologous chromosomes - autosomes

• 1 pair of sex chromosomes

1 - 3

A B

C

D E

F G

4 - 5

6 - 12

13 - 15 16 - 18

19 - 20 21 - 22 XX or XY

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HUMAN KARYOTYPEHUMAN KARYOTYPEChromosomeChromosome groups characteristicsgroups characteristics

Group Chromosomes Size and Shape

A 1 – 3 Large metacentric

B 4 and 5 Large submetacentric

C 6 – 12 and X Medium submetacentric

D 13 – 15 Medium acrocentric

E 16 – 18 Short submetacentric

F 19 and 20 Short metacentric

G 21 and 22 and Y Short acrocentric

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GG -- BANDING PATTERNSBANDING PATTERNS

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METAPHASEMETAPHASE

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KARYOTYPEKARYOTYPE

46,XY

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FEMALE KARYOTYPEFEMALE KARYOTYPE

46,XX