(medical genetics)

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????? (medical genetics)
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??? ???? (chromosome disease)
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?????????????????????????????
1877?Fleming????????????
1923?Painter T S(???)???????????????????????????
,?? 2n48,XX(XY)?
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1952????????(Hsu T C)?????????????,????????????4
6,???????????,????Painter?2n48????
1956?,???????(Tjio J H)?Levan
A(??)???????????,????????????46,???????????????
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??(p)
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??(q)
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????????????????????3??? ?????????
(metacentric chromosome) ??????????
(submetacentric chromosome) ?????????
(acrocentric chromosome)
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????????
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??
1/25/8
5/87/8
???
7/8
????? ???
????? ???
????? ???
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??? ???????
? ??????????????
????????????
10
????????????
1952????????(Hsu T C)?????????????.
1956?,???????(Tjio J H)?Levan
A(??)????????(colchicine)??????????,????????????
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1960?Nowell(???)??????????(phytohaemagglutini
n, PHA)??????????????????
?? Moorhead P S(????)?????????,????????????????
,??????????????
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1???????????????????
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(No Transcript)
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??G?????
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2?????????????
?????????1620? ?????????79?
???? ??????? ????
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???????
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??? ???????
? ??????????????
????????????
???????????
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???????????
1960?,??????????????????,?????????????,??????(
Denver system)?

• ????? A?B?C?D?E?F?G??

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??????????(Denver??)
A? B? C? D? E? F? G?

????????
????????
4 5
????????
6 12?X
????????
13 15
????????????
????????
????????
19 20
????????
???????????? Y????????????????
2122?Y
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??(Karyotype) ?????????????????????????????????
???????????????????????
???? ?????????????? ???????
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???? ?????,???????????? ??????????
46 , ??????????? XY( XX ), ?????,???
???????? 46,XY ???????? 46,XX
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???????????
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????46,XY
????46,XX
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(No Transcript)
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??? ???????
? ??????????????
????????????
???????????
??????????
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??????????
1968?????????Caspersson,???????????????,????????
?????????????
?(band)?????????????? ??????????????????
??????
??(banding pattern)??????,???24????????????????
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??????????

• Q??????(QM)

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Q????????(QM)??????(QH)??????????,????????????
??Q??????,???????????????,??,???Q????????
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(No Transcript)
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??????????

• Q??????(QM)

• G???Giemsa

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G??(G banding)
1971?Seabright M?????? Giemsa???????,??G????????
Q???????
Q????????,?Giemsa????, Q????????,?Giemsa?????
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G?????Q?????,G????????,????????????,??????????
,???????????????????????????????
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??G?????
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(No Transcript)
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??????????

• Q??????(QM)

• G???Giemsa

• ??????Giemsa or Acridine Orange

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(No Transcript)
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??????????

• Q??????(QM)

• G???Giemsa

• ??????Giemsa or Acridine Orange

• R?????????G???

1971?Dutrillaux??????????
Giemsa
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(No Transcript)
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??????????

• Q??????(QM)

• G???Giemsa

• R????Giemsa

• C?NaOH?Ba(OH)2 Giemsa
• Y??? ? ??? ? ???

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(No Transcript)
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(No Transcript)
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??????????

• Q??????(QM)

• G???Giemsa

• R????Giemsa

• C?NaOH?Ba(OH)2 Giemsa
• Y??? ? ??? ? ???

• T??????????

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(No Transcript)
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??????????

• Q??????(QM)

• G???Giemsa

• R????Giemsa

• C?Y??? ??? ???

• T??????????

• N?AgNO3Giemsa, NOR

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(No Transcript)
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321
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1234
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46
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2
Xp
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1
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1
1 2 3 4 5 6 7 8
Xq28
Xq
2
47
??? ???????
? ??????????????
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???????????
??????????
?????????????
48
?????????????
(?)?????(high resolution banding)
20??70??????????320? 70???,???????????????????
???,????????550??580????????
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???????? ??????? 550--850
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(No Transcript)
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??1??????????????????
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(?)??????
??????????????,?????????????????????????
?????

• 1959??????????21?????
• ?????,21q22???????
• ????????????,
• 21q22.3?????

53
??????
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(?)???????
??????(fluorescence insitu
hybridization,FISH)???
????????????, ???????21q22.3???????
21q22.3???????????
??????
?????????
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(No Transcript)