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La natura ereditaria dei caratteri multifattoriali si manifesta come aumento dell’incidenza del carattere fra I PARENTI di chi ha gia’ il carattere (probando). h 2 = 0.9. h 2 = 0.0. h 2 = 0.6. A. B. C. D. E. F. G. H. *CCTGCCA C CGGCTG. A. B. C. D. E. F. G. H.

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H 2 0 9

La natura ereditaria dei caratteri multifattoriali si manifesta come aumento dell’incidenza del carattere fra I PARENTI di chi ha gia’ il carattere (probando)


H 2 0 9

h2 = 0.9


H 2 0 9

h2 = 0.0


H 2 0 9

h2 = 0.6


H 2 0 9

A

B

C

D

E

F

G

H

*CCTGCCACCGGCTG

A

B

C

D

E

F

G

H

*CCTGCCAGCGGCTG


H 2 0 9

rs859208

rs1043657

A

B

C

D

E

F

G

H

A

B

C

D

E

F

G

H


H 2 0 9

rs1043657

A

G

6/188=0.032

(75x2+6+12)/

188=0.894

G

174

a

b

rs859208

(12+1x2)=

0.074

0

14

C

c

d

188

6

182

rs859208

rs1043657

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

6

G G

G G

75

G G

C G

12

G G

C G

1

C G

94


H 2 0 9

[(a x d) - (b x c)] 2

= 0.0027

r2 =

(a+c)

(b+d)

(a+b)

(c+d)

rs1043657

A

G

H0: a:d = b:c; a:b = d:c

6/188=0.032

(75x2+6+12)/

188=0.894

0.926

G

(a+b)

a

b

rs859208

(12+1x2)/188=

0.074

0

0.074

D = (a x d) - (b x c) = .00237

C

c

d

(c+d)

D' = D/Dmax = 1

6/188=0.032

(14+168)/188=

0.968

(a+c)

(b+d)

2 = r2 x N = 0.0027 x 188 = 0.508


Linkage disequilibrium associazione non casuale di alleli a loci diversi in cis

LINKAGE DISEQUILIBRIUMAssociazione NON CASUALEdi alleli A LOCI DIVERSIin cis


H 2 0 9

r2

r2

r2

= 1

= 0.00

= 0.44

rsxxxxxxxx

A

A

A

G

G

G

0.16

0

0.40

0.24

0.40

0

0.40

0.40

0.40

G

a

a

a

b

b

b

rsyyyyy

0.36

0.24

0.20

0.60

0.40

0

0.60

0.60

0.60

C

c

c

c

d

d

d

0.40

0.60

0.40

0.60

0.40

0.60

(a+c)

(b+d)

(a+c)

(b+d)

(a+c)

(b+d)

D = .24

D = .00

D = -0.16

D' = D/Dmax = 1

D' = D/Dmax = 0

D' = D/Dmax = 1

G-A

C-G

G-A

G-G

C-A

C-G

G-G

C-A

C-G


H 2 0 9

r2

r2

= 0.00

= 0.44

rsxxxxxxxx

A

A

G

G

0.10

0

0.30

0.40

0.40

0.40

G

a

a

b

b

rsyyyyy

0.50

0.10

0.40

0.20

0.60

0.60

C

c

c

d

d

0.20

0.80

0.20

0.80

(a+c)

(b+d)

(a+c)

(b+d)

D = .02

D = -0.08

D' = D/Dmax = 0

D' = D/Dmax = 1

G-A

G-G

C-A

C-G

G-G

C-A

C-G


H 2 0 9

DEDUZIONE DELLO STATO ANCESTRALE

H.sapiens

Clint (Pan troglodytes)

A

A, G

Ho: Uguali per discesa cioe' ancestrale


H 2 0 9

C

G

5'

ala

gln

G

A

5'

thr

his

G

G

5'

ala

his

APLOTIPI INDIVIDUATI

FILOGENESI

rs1043657

rs859208

Africa

Eurasia occ.

In- e out-of-Africa

Mut. G>A in rs1043657

Mut. C>G in rs859208


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