22X XX

,5000,4000,600

AD

36%AR

10%X

pied de grmepidgree Proband :

SymbolsMALE, UNAFFECTED

FEMALE, AFFECTED

MALE, DECEASED

MATING

CONSANGUINEOUS MATING

THREEMALES, TWO FEMALESTHREEINDIVIDUALS, SEX NOT SPECIFIEDMALE, HETEROZYGOUS FOR AUTOSOMAL RECESSIVE TRAITFEMALE, HETEROZYGOUS FOR X-LINKED RECESSIVEDIZYGOTIC(NON-IDENTICAL) TWINSMONOZYGOTIC(IDENTICAL) TWINS

SPONTANEOUS ABORTION(MISCARRIAGE)STILLBIRTH

PREGNANCY

. Autosomal dominant inheritanceAD

122AD

Aa AA

4-9

7

2

5

1

1

1

1

2

2

2

2

3

3

4

4

4

3

5

5

6

6

6

7

7

7

8

8

8

9

9

1/2

AD1) 2) 1/23) /AD

() incomplete dominancesemi-dominance Aa AaAa AaAAaa

PTC TTttTtTTtt P TT X tt F1 Tt X Tt

F2 TT Tt Tt tt 1/4 2/4 1/4

Aa X aa Aa X Aa

Aa aa AA Aa Aa aa

p36

(),,,,

2

3

3

1

1

1

2

2

3

4

4

4

4-11

II2I3I3

2

3

3

1

1

1

2

2

3

4

4

4

4-11

10Aa8AA80% Aa

ABO ABO Aa

ABO9q34IAIBi IAIBi3n(n+1)/2=3(3+1)/2=6

IA IBi IA IBABO IA IAIAi A A IB IBIBi B B ii H O IA IB AB AB B O

IA IB X IA IB

IA IA IAIB IAIB IBIB A AB B () ,MN.

() delayed dominance Huntingtons chorea4p16Aa20140386094

1

1

2

3

2

2

1

4

4

3

5

5

6

6

7

8

9

10

11

1

2

45

41

44

30

46

42

20

4-12

35II3II1I21/2

1

1

1

2

2

2

3

6

3

4

5

4-13

(Autosomoal Recessive InheritanceAR ) AR

1631albinism,aaaa

Albinism

Albinism

AR: Phenylketonuria PKU Sickle cell anemia Albinism Alcaptonuria Galactosemia

PKU

2/3

Aa)aAaobligatory carrierAaaa143413AA,2/3Aa

-------

1

1

1

1

2

2

2

2

3

5

4

4-15

AR1. ( horizontal)2. 3.1/4 2/31/4.4..5. 6.

AR

1 2~31/4

1 42%

2 42%

3 14%

4 2%

2. 3. 4. 50%AD aa Aa

Aa aa 1 1

534

1/2 0.5 1/4 0.25 1/8 0.125

AR1/1001/1000 1/501/5002pq

1/50 X 1/50 X 1/4=1/10000 1/50 X 1/8 X 1/4= 1/1600 1/500 X 1/500 X 1/4=1/1000000 1/500 X 1/8 X 1/4= 1/16000 1/3600 1/60 1/30

X Xlinked inheritance

1) X X-linked recessive inheritance, XR XXXXR

Genotype Phenotype XAXA nor XAY nor XAXa carrier XaXa p XaY p

X

hemizygoteX Xq28 7.0%,0.5% X Xq28 7.0%,0.5%

1 X XBXB XbY

XB Xb Y

XB Xb XB Y ,

(2) X XB Xb XB Y XB Xb XB Y

XB XB XB Xb XB Y Xb Y

,,,-----

4-20 . X

2

1

1

1

2

2

3

3

4

4

5

5

6

6

7

7

8

2

1

1

1

2

2

3

3

4

4

5

5

6

6

7

7

8

4-20

XR X

) X X-linked dominant inheritanceXD

XXXXD

X -- XD

Genetype Phenotype XAXA p XAXa XaXa nor XAY P XaY nor

XX 21

1 XAY XaXa 2 XAXa XaY

XAXa XaY XAXa XAY XaXa XaY

1/2X

VD 1:2X

1

2

1

1

2

5

2

3

3

3

4

4

7

5

6

6

9

7

8

8

4-23 D

XD X

122131/2 4

Y YY YY-linked inheritance holandric inheritance

YY23CM

6

1

1

1

2

2

2

3

3

4

4

5

5

4-24