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