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
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