la natura ereditaria dei caratteri multifattoriali si manifesta come aumento dellincidenza del...
TRANSCRIPT
La natura ereditaria dei caratteri multifattoriali si manifesta come
aumento dell’incidenza del carattere fra I PARENTI di chi ha
gia’ il carattere (probando)
PAT01
200190180170160150140
FIG
2
200
190
180
170
160
150
140
h2 = 0.9
PAT01
200190180170160150140
FIG
01
200
190
180
170
160
150
140
h2 = 0.0
PAT01
200190180170160150140
FIG
3
200
190
180
170
160
150
140
h2 = 0.6
A
B
C
D
E
F
G
H
A
B
C
D
E
F
G
H
1 2 3 4 5 6 7 8 9 10 11 12
A - GC
B -
C GC CC
D GG
E GG
F GG
G GG
H GG
*CCTGCCAGCGGCTG
*CCTGCCACCGGCTG
ABCDEFGH
A
B
C
D
E
F
G
H
1 2 3 4 5 6 7 8 9 10 11 12
A -GC
GG
B -
CGC
GG
CC
GG
DGG
GG
EGG
GG
FGG
GG AG
GGG
GG AG
HGG
AG AG AG AG
rs1043657rs859208
G/G; A/A
G/G; A/G
G/G; G/G
G/C; A/A
G/C; A/G
G/C; G/G
C/C; A/A
C/C; A/G
C/C; G/G
G A
G G
G G
G G
C G
G G
C G
C G
rs1043657rs859208
6
75
12
1
rs1043657
rs85
9208
G
C
A G
6/188=0.032
a
(75x2+6+12)/188=0.894
b
c d
(12+1x2)=0.074
0
174
14
1826 188
94
H0: a:d = b:c; a:b = d:c
D = (a x d) - (b x c) = .00237
rs1043657rs
8592
08
G
C
A G
6/188=0.032
a
(75x2+6+12)/188=0.894
b
c d
(12+1x2)/188=0.074
0
0.926
(a+b)
(a+c)
(c+d)
(b+d)
6/188=0.032 (14+168)/188=0.968
0.074
D' = D/Dmax = 1
[(a x d) - (b x c)] 2
r2 =(a+c) (b+d) (a+b) (c+d)
= 0.0027
2 = r2 x N = 0.0027 x 188 = 0.508
LINKAGE DISEQUILIBRIUM
Associazione NON CASUALEdi alleli A LOCI DIVERSI
in cis
rsxxxxxxxxrs
yyyy
y
G
C
A G
0.16
a
0.24
b
c d
0.360.24
0.40
(a+c) (b+d)0.40 0.60
0.60
D = .00
D' = D/Dmax = 0
r2 = 0.00
A G
0
a
0.40
b
c d
0.200.40
0.40
(a+c) (b+d)0.40 0.60
0.60
A G
0.40
a
0
b
c d
0.600
0.40
(a+c) (b+d)0.40 0.60
0.60
G-AG-GC-AC-G
D = -0.16
D' = D/Dmax = 1
r2 = 0.44
G-GC-AC-G
D = .24
D' = D/Dmax = 1
r2 = 1
G-A
C-G
rsxxxxxxxxrs
yyyy
y
G
C
A G
0.10
a
0.30
b
c d
0.500.10
0.40
(a+c) (b+d)0.20 0.80
0.60
D = .02
D' = D/Dmax = 0
r2 = 0.00
A G
0
a
0.40
b
c d
0.400.20
0.40
(a+c) (b+d)0.20 0.80
0.60
G-AG-GC-AC-G
D = -0.08
D' = D/Dmax = 1
r2 = 0.44
G-GC-AC-G
H.sapiens
A, G A
Clint (Pan troglodytes)
DEDUZIONE DELLO STATO ANCESTRALE
Ho: Uguali per discesa cioe' ancestrale
APLOTIPI INDIVIDUATI
rs1043657 rs859208
5'G C
ala gln
5' G G
ala his
5'A G
thr his
Mut. G>A in rs1043657
Mut. C>G in rs859208
FILOGENESI
Africa
Eurasia occ.
In- e out-of-Africa