Clinic genetics - PowerPoint PPT Presentation

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Title:

Clinic genetics

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Title: Author: abc Last modified by: user Created Date: 6/5/2000 6:30:35 AM Document presentation format: Other titles – PowerPoint PPT presentation

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Tags: clinic | genetics | scid

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Title: Clinic genetics


1
???? ????
  • Clinic genetics

2
  • ????????????????,
  • ??????????????????
  • ????????
  • ????????
  • ????????
  • ????????

3
????????
  • (?)???????????
  • 1?????(symptomatic diagnosis)
  • ???????????????????
  • 1)????
  • ??????????????????
  • 2)????
  • ???????????????DNA??

4
??????????
5
DNA?????
6
DNA??????????
7
2?????? (presymptomatic diagnosis)
  • ???????????????????
  • ????????????????????????????,???????????????????,?
    ????????
  • 1??????????
  • 2?DNA??

8
(No Transcript)
9
3??????(prenatal diagnosis)
  • ??????????????????,???????????????????,???????????
    ???????

10
????????
  • 1)??????????,??????????,???????,??????????????
  • 2)35????????
  • 3)?????????????,?????????????
  • 4)????????????,???????????
  • 5)X????????????
  • 6)???????????????
  • 7)???????
  • 8)?????????????
  • 9)????????,??????????

11
???????????
12
4??????
  • ????????????????????,????????????????????????????3
    ??(4-8?????)
  • ??
  • 1) ???????????????
  • 2)?????????,?????????

13
(?)????
  • 1???
  • ?????????????????(DNA)??????(mRNA)?????????????
  • 2????????
  • 3????????

14
4??????????
  • 1)????????????
  • ??????????

15
DNA??
16
DNA??
17
  • 2????????????????

???????????????(ASO)
18
5??????
19
????????
  • (?)?????????
  • (?)????

20
(?)????
  • 1????????
  • ??????,?????????

21
  • 2????????
  • ????????????

22
  • 3????????
  • ?????????
  • ??????????????
  • 4????????????
  • ?????????
  • 5???????
  • ???????????????

23
(?)????
  • 1???
  • ?????????????,????????????,????????????
  • 2???????????

24
  • 3????????
  • 1)???????
  • 2)???????
  • ?????????? ??????
  • 3)???????
  • ???????????????
  • 4)??????
  • 5)????
  • ????-?????????

25
(No Transcript)
26
(No Transcript)
27
(No Transcript)
28
4???????????????????????
29
????????
  • 1999?,?????Cavazzana-Calvo???????????,????SCID(XR
    )???(???11??8??)??????,?10?????,????,T,B??????????
    ????????????

30
????????
  • ?????(secondary prevention)
  • ??????????????????
  • ??????????????????
  • ??????????
  • ?????(primary prevention)
  • ???????????????????????????

31
(?)????(genetic screening)
  • 1??????
  • (1)???????????????
  • (AFP)??????????

32
  • (2)?35??????,???????????????,????????????

33
  • 2??????
  • ??????????????????
  • ??????????????????Duchenne???????
  • ????????2???,???????????

34
(No Transcript)
35
  • 3??????
  • ???????,??????????????
  • AR?????????
  • X?????????????
  • AD????????????
  • ?????????????
  • ?????????????????

36
(?)????
  • 1???????????
  • 2????????
  • 3????????????

37
1???????????
  • 1)???????
  • ?????????
  • ?????????????????,
  • ???
  • ?????????
  • ???????????????,??????????????

38
  • 2)???????
  • a)????
  • b)??????(????)
  • c)??????
  • d)????????
  • e)???????
  • ?????
  • ????
  • ???????,???????????
  • ?????????????????
  • f)????

39
2????????
  • 1)???????
  • 2)???????
  • 3)???????
  • 4)???????
  • 5)???????

40
3?????????(estimation of recurrence risk)
  • (1)?????????????
  • (2)?????????????
  • (3)?????????????

41
(1)????????????
  • ???????
  • ?????????
  • ?????????????????
  • ??,????????????
  • ???????45,XX,-14,-21,t(14q21q)
  • ???????6???
  • 23,X
    22,X,-14,-21,t(14q21q)
  • 23,X,-14,t(14q21q) 22,X,-21
  • 23,X,-21,t(14q21q) 22,X,-14

42
  • ???????????(23,X)???
  • ???????
  • 46,XX
    ??
  • 45,XX,-14,-21,t(14q21q) ???
  • 46,XX,-21,t(14q21q) ????
  • 45,XX,-14
    ??
  • 45,XX,-21
    ??
  • 46,XX,-14,t(14q21q) ???21??

43
21???????????
44
  • ???????????
  • ?????????????,????
  • ?,?21??????????????
  • ????????????XXX????
  • ??XYY??????????????
  • ???????????

45
  • ??????????????(?????)????????

46
(2)?????????????
  • ??????????????????
  • ???????????????????
  • ???????????????
  • ??????????????

47
??????????
  • AD ????????

48
  • AR

49
  • XD

50
  • XR
  • ????????????
  • a.???????
  • b.??????????
  • c.???????,????????????

51
  • XR

52
???????????
  • ???????????????
  • ?????????,?AR

53
  • ???????????????
  • ?XR

54
  • ??????????????
  • ????A(XR)??

55
  • ??????????????
  • Bayes?????
  • ???(prior probability)?????,?????????????????????
    ?????????????????
  • ????(conditional probability)?????????????,??????
    ???????????????????????
  • ????(joint probability)??????????????????????????
    ??????
  • ???(posterior probability)??????????????????,????
    ????????????????


56
????????(XR)
57
(No Transcript)
58
???Huntington?????(AD)
59
(No Transcript)
60
(No Transcript)
61
(No Transcript)
62
??????????(AR)
63
(No Transcript)
64
???Hurler?????(AR)
65
(No Transcript)
66
(3)?????????????
  • ?????????????????????????????????????
  • ?????????????????????

67
(No Transcript)
68
(No Transcript)
69
(?)???????
  • 1????????(genetic register)
  • 2?????????
  • 3????????
  • 4?????(genetic follow-up)

70
1????????
  • ?????????????????????????????????????????
  • ??1)??????
  • 2)????????
  • 3)??????
  • 4)???????

71
2?????????
  • ????????????????????,??????,????????,????????????
    ??

72
3????????
  • 1)?????
  • 2)?????
  • 3)????????
  • 4)???????

73
4?????(genetic follow-up)
  • ??????????????????????????,?????????????????????,?
    ???????????

74
(?)????(genetic care)
  • ???????????????????????????????????????????????
  • 1???????
  • 2?????????
  • ?????...
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