HUMAN CHROMOSOM

GLOSSARY
CHROMATID: IN DIVIDING CELL AFTER
DNA SYNTHESE, A CHROMOSOME IS
SEEN TO BE COMPOSED OF TWO
IDENTICAL PARALLEL STRANDS, THE
SISTER CHROMATID CONNECTED AT
THE CENTROMERE

GLOSSARY
CHROMOMERE: A DENSELY COILED REGION
OF CHROMATIN ON A CHROMOSOMES
CHROMATIN: THE ASSOCIATION OPF DNA &
PROTEIN OF WHICH CHROMOSOMES ARE
COMPOSED
CHROMOSOMES SATELLITE: A SMALL MASS
OF CHROMATIN AT THE END OF SHORT ARM
OF EACH CHROMATID OF AN ACRICENTRIC
CHROMOSOMES

 CEN: CENTROMERE SPINDLE FIBER IS

ATTACHED DURING DIVISION
TER : TELOMERE ONE OF THE TWO
TERMINAL CHROMOMERE OF CHR
PROXIMAL Xq : LONG ARM OF X AND
CLOSES TO CEN
DISTAL 2p : SHORT ARM OF 2, MOST
DISTAN FROM CEN AND CLOSEST TO
THE TER

CHROMOSOMES
CHROMATIN ----CHROMOSOM
HUMAN GENOME

46 CHROMOSOMES
22 PAIRS: AUTOSOMES
1 PAIR : SEX CHROMOSOME
M: 46,XY
F : 46,XX
SEX CHROMATIN
F: XX
X: INACTIVE
X:ACTIVE
BARR BODY
DRUM STICK

STUDYING HUMAN
CHROMOSOMES
DIVIDING CELLS:
BONE MARROW

NON DIVIDING CELLS

BLOOD: T LYMPHOCYTES
SKIN BIOPSIES: FIBROBLAST
FETAL CELLS: CHORIONIC VILLI AND
AMNIOTIC FLUID

THE CELL CYCLE

INTERFASE: G1 + S + G2
G1. 46 CHRS ( EXTENDED ) ONE DNA
DOUBLE HELIX / CHR.
S. DNA SYNTHESIS. 46 CHRS
(EXTENDED ). TWO DNA DOUBLE
HELIX
G2
M. 46 CHR. CONDENSED

HUMAN CHROMOSOMES
NUCLEAR:
LINEAR
3300 MB
~80000 GENES

MITOCHONDRIAL:
16,6 MB
37 GENES

HOW TO STUDY ?
SPECEMENT
CULTURE: METAFHASE
HARVEST
BANDINGPHOTOMICROSCOPE

CHR IDENTIFICATION
ON THE BASIS OF:
SIZE
POSITION OF THE CENTROMERE

BANDING:
IDENTIFICATION MORE ACURATE
TRANSLOCATION BREAK POIN
SUB. CHR. DELETION

KARYOTIPE: M:46,XY, F:46,XX

NOMENCLATURE
SHORT ARM : p
LONG ARM : q

REGION : p.1
BAND : p.11
SUB BAND : P.11.1
SUB-SUB BAND : P.11.11

METACENTRIC : p = q
SUBMETACENTRIC : p < q
ACROCENTRIC : p << q

HUMAN CHRS. GROUPS

GROUP
A

B
C
D

E
F
G

CHR
13

DESCRIPTION
LARGES.1.3 METACENTRIC
2 SUBMETACENTRIC
4,5
LARGE, SUBMETACENTRIC
6 12, X
LARGE, SUBMETA
13-15
MEDIUM, ACROCENTRIC
WITH SATELLITES
16 18 SMALL, 16 META
17,18 SUBMETA
19, 20,
SMALL,META
21, 22, Y
SMALL, ACROCENTRIC
21, 22 WITH SATELLITES

MITOCHONDRIAL CHROMOSOME
CIRCULER DOUBLE STRANDED DNA
H. STRAND : RICH IN GUANINES
L. STRAND : RICH IN CYTOSINES
7 S DNA
: THE 2nd REPLICATION OF
H. STRAND
D. LOOP
2 rRNA GENES
22 TRNA GENES
13 POLYPEPETIDE ENCODING GENES