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Culture Documents
XY
XX
DNA
DNA
DNA
DNA
kinetochore
DNA
G1
DNA
,G2
(primary constriction)
Metacentric
Submetacentric
Acrocentric
Telocentric
PHA
EBV
0.075M KCl
PB
Colcemide
Tissue culture
24-48h
1. PB Lymphocytes+PHA
2. Bon e marro w cells w/o PH A
Harvest
Spread on Slides
G-Banding
trypsin-Giemsa
FISH
DNA Probe
Karyotype
15 ,14 ,13
G D
G
NOR
22 21
RNA
(nucleolar organizer region)
A-G
(banding)
DAPI quinacrine
acridine orange
G
G
(Reverse)
quinacrine
Q
R
R
Ba OH
G
C
Ba OH
6
Yq
R
H
C
(nucleolar organizer region)
S
AgNO
NOR
R G
7
46,XY G
19
20
21
22
X
G
3
2
satellite
NOR
centromere
C-band
1
1 2
R-band
G-band
Telomere
20
1
11 1
2
1
2
1
22
3
21
R G
methotrexate (MTX)
S
MTX
S
9
Tyler-Smith C, Willard HF. Mammalian chromosome structure. Current opinion in Genetics
and Development 3:390-397,1993
Craig JM, Bickmore WA. Chromosome bands-flavours to savour. BioEssay 15:349-354,1993
Gardiner K. Human genome organization. Current Opinion in Genetics and Development.
5:315-322, 1995
DNA
Y
NOR
C
Q
Yq 16 9
16qh+
Yq
Fragile sites
Xq27.3
16qh+
10
In Situ Hybridization (ISH)
DNA
FISH
(Fluoresence In Situ Hybridization)
FISH
DNA
DNA
FISH
FISH
R
Alu
unique sequences
(chronosome painting)
11
FISH
FISH
FISH
FISH
sat
BAC/YAC
PCP
WCP
Y
18
Centromere
specific
Unique
sequence
Partial
chromosome
paint
Whole
chromosome
paint
18
Interphase
FISH
FISH
M.R.Teixeira. Combined classical and molecular cytogenetic analysis of cancer . European
Journal of Cancer 38 :1580 1584, 2002
(TTAGGG)n
DNA
chromosomal breakage syndromes
Ataxia telangiectasia
Xeroderma pigmentosum
Fanconis anemia
Bloom syndrome
Fanconis anemia
12
Acentric
(lost)
(deletion)
del(5)(p13pter)
(cri du chat)
Interstitial deletion
Bloom syndrome
13
(Ring)
pericentric inversion
paracentric inversion
inv(3)(p12;q23)
14
reciprocal translocation
P
P
q
20 der(20)
q
der(2)
t(2;20)(p21;p23)
15
(Robertsonian)
16
DICENTRIC CHROMOSOME
ACENTRIC FRAGMENTS
ISO( )p
ISO( )q
17
illegitimate crossing-over
unequal crossing-over
unequal crossing-over
duplication
deletion
crossing-over
a'
b'
crossing-over within the inversion
c'
d'
a
b
c
d
d
c b
b
a b c d
18
de novo
45,X
40%
60%
30%
10%
10%
5%
5%
19
Down syndrome
47,XX or XY,+21
Pateau syndrome
47,XX or XY,+13
Edwards syndrome
47 XX or XY,+18
Down
(non-disjunction)
20
(non-disjunction)
II
DNA
dictyotene
I
I
21
Mother
Mat
Meiosis I
DNA
Father
Mat
Meiosis II
Mother
Mat
Meiosis I or II
Father
Pat
Meiosis II
22
I
II
I
II
23
24
25
Hassold T and Hunt P. To err (meiotically) is human: the genesis of human aneuploidy.
Nature review Genetics 2:280-291,2001
Reeves RH, et al. too much of a good thing: mechanism of gene action in Down syndrome.
Trends in Genetics 17:83-88,2001
RNA
____________________________________________________
26
21
14
balanced
unbalanced
unbalanced
zygotes
balanced
1/3
balanced
1/3
Tri 21
1/3
46,XX or XY,-14,t(14q;21q)
Monosomy
21
Tri 14
Monosomy
14
Spontaneous abortion
27
46,XY or XX,t(A;21)
28
meiotic quadrivalent
Segregation 1:3
Gamete:
24 chromosome
Gamete:
22 chromosome
t (4;21) (q35;q22.2)
Parent
der(21) 21
der(4)
Offspring
obligatory
nondisjunction
microdeletions
contiguous
FISH
genes syndromes
contiguous genes syndromes
15q12
Angelman Prader-Willi
13q13
11p13
Anhiridia/Wilms tumor
17q15
Miller-Dieker
17q15
Miller-Dieker
30
15
13
12
11.2
11.1
11.1
11.2
12
13
cent
SNRPN
14
15
21.1
21.2
21.3
22.1
22.2
22.3
13
PML
24
25
26.1
26.2
26.3
q
SNRPN)
FISH
15q23
PML
Budarf ML, Emanuel BS. Progress in the autosomal segmental aneusomy syndromes (SASs):
single or multi-locus disorders? Human Molecular Genetics, 6:16571665,1997
31
uniparental disomy-UPD
nullisomic
gamete complementation
nondisjunction
(imprinting)
Hydatiform mole
DNA
Hydatiform mole
32
PWS
Gametes:
Ova:
disomy 14
Sperm:
nullisomic 14
33
UPD
(microdeletion)
~70%
~30%
Robinson WP. Mechanisms leading to uniparental disomy and their clinical consequences.
BioEssays 22:452-459,2000
34
x
x
hydatiform mole
anaphase lag
unequal crossing-over
ambiguous genitalia