???:??????? ??:T.D. ???? ????? ??:? ?(1999)

1
?????
Medical Genetics
? ?????? ????? (2001) ??????????
??T.D. ???? ????? ???
?(1999)
2
??? ??????????

• ??????????????????? ???????????

?????????,????????????????????????????????????????
???
3

• ???????????????
• ???????????????,
• Down????Turner???
• ???????????????
• ????????????
• ????????,???????
• ?????G - 6PD

4
(No Transcript)
5
?????????
???(inherited disease)???????????
??????????(???)??????? 1)??? ?????????????
????????????????,???????,?????????????????????????
???,??????????,?????????????,?????????????????????
,????????????,?????????????
6
2)??????????,?????????,?? ??????????????? 3)?
?????????????????????? ???????????????????????
??????????????,???????? ?????????(??) 4)???
??????????????,???? ??,?????????????????????
7

• ?????(congenital disease)????????????????(???
  ?)???,????????????,??,???????????????,????????????
  ?????????????????,?????????????,?????????Hungtingt
  on??????25-45???????,?????????????????

8

• ?????(familial disease)???????????????????????
  ??????????????,????????????????(????????)?????????
  ?,??????????????????,????????????????,????????C???
  ??????,???????,???????

9
???????????

• (1)????????30,???????
• ?10???????????????
• ????
• (2)????????2000??????1.3
• ?????,???80???????
• (3)??????70????????,??
• 50???????

10

• (4) ????????????8000??,??35
• ???????????,?????,??
• 1520?????????????????
• ?,????2025?????????
• (5) ???????37?????????????
• ????900??,?????10?
• (6) ???????????56?????,?
• ?????,????????????

11
?????(Medical genetics)?????????????????????????
????? ????(genetic medicine)????????????,???????
????????????????,????????????????????,????????????
????
12
??? ?????????

• 1866?,???????G.T.Mendel
• ?????10????????,?
• ??????,?????????
• ????????????????
• ????,?????????
• (hereditary factor)?

13

• 1902?,Farabee?????????????????
• ????????????

• 1901?,Garrod??????????????

• 1909?,??????Johannse?????????
• ??,?????(gene)??,????Mendel?
• ????,????????????????

• 19101912?,??????Morgan????????
• ?????,??????????????????
• ??????????????????????
• Mendel????????????????????
• ???????,???????????????

14

• 1941?, Beadle?Tatum?????????????
• ????.

• 1949?, Neel?Pauling???????,??????
• ??????

• 1923?-1952?,????,???????????
• ????????????????????

• Watson?Crick??DNA?????????

15
A structure for deoxyribonucletic acid
(Nature 1953171737 )
16

• 1956?,Tjio?Levan????????????46
• ????48??
• 1959?,Lejeune???Down???????21??
• Jacobs??Klinefelter????47,XXYTurner?
• ??Turner????45,X?

• ??70????,??????????????
• ????????????????????.

?????? ???? ??????? ?????
17
??? ????????

• ????(chromosome disorders)
• ???????????????????????,???????????Down???,?????
  ????????,???????????????300??,???????????????,????
  ?????

18

• ????(single-gene disorders)
• ????????,??????????,
• ???????????,????????
• ??????
• ????(polygenic disorders)
• ????????????,???????
• ??????????????????,?
• ?????????????????

19

• ????(mitochondrial genetic disorders)
• ?????????????,????????????????,?????????,??????
  ??
• ??????(somatic cell genetic disorders)
• ???????????????????????????,???????????????????
  ????????

20
?????
????(21?????? Down???????)
??????(Grebe?)
21
??????
??????(????D???)
?????????
22
??????
???
??????
23
??? ?????????????

• 1.?????(cytogenetics) ??????????
  ??????????(???)?????????????????
• 2.?????(biochemical genetics) ???????????????????
  ???????????????
• 3.?????(molecular genetics) ?????????????????????
  ??????????????
• 4.?????(population genetics) ????????,???????????
  ??????

24

• 5.?????(Immuno genetics) ?????????????,??????????
  ??
• 6.?????(pharmaco genetics) ????????,?????????????
  ???
• 7.?????(cancer genetics) ?????????,????????????
• 8.?????(behavior genetics) ?????????,????????????
  ?
• 9.?????(clinical genetics) ???????,??????????????
  ????

25
????????

• ???????????????,??????
• ???????????????,??????
• ????????
• ????,???????????????21?
• ???????????,??????????
• ?(individnalized genomic medicine)?
• ??????????????????????
• ??????????????????,???
• ????????,??????