??(Deletion)

1
??? ?????????

• ??
• ??
• ??
• ??
• ??
• ??????????????
• ?????????????

2

• ??????????????
• ????
• ????
• ????
• ??(Deletion)
• ?? ??????????
• ???????
• ???????????????????(transposon) ????????(error in
  recombination enzyme)

3

• ???????
• ?????????????
• ????????????????
• ??????????????, ?????????? ,??????,???,??????????
  (monosomic cell)
• ????????,???????,???????? ?????,?????????,???????
  ????
• ?????????????????
• ?????(Karyotyping)
• ??????? ?????,???????(?????? ??,???????)
  ,?????????,?????? ?(unpaired loop)??

4

• ?????
• ????(terminal deletion) ?????????
• ????(interstitial deletion) ???????????

5

• ?????
• ???(pseudodominance) ?????????????,?????????????
  ????????
• ????????????,???????,???????????
• ???????
• ???(cri du chat syndrome) ,?????????(p arm)?????
• ????????,????????
• ?????????,?????????? ??????,?????,????,??????,??
  ??IQ?20-40?,???
• ???? 46?XX?5p-?

6

• ???????????
• ????????(polytene chromosome)
• ????????????(Diptera)??,???????????????????
• ???????
• ??????????,????????,????????,???????????,?????????
  (endomitosis) ,??????????
• ??????????DNA??,???????1000 ?DNA??(??1000?????)
  ,???????? 100??
• ????????,???????????, ?????????,???????????,?????
• ???????????,?????????,???????????( banding
  pattern)

7
(No Transcript)
8

• ?????????5000 bands ,??????????????,?????)???????,
  ???????????
• ????????????????????,???????????,??????
• ???????????(chromosome puff)??????(Balbiani ring)
• ???????????,??????????
• ?????????????puff???????,???puff???????(stage-spec
  ific)??????(tissue-specific)
• ????????,?????????puff???,??? ?puff???,puff?????,?
  ??????????

9
(No Transcript)
10

• ???????????????
• ?????,?????????
• ????????????????, ?????????????????
• ?????????,???????????,??????????(somatic
  synapsis)
• ?????????,??????,???????????????????? ???????

11
(No Transcript)
12

• ??(Duplication)
• ?????????????,?????????????,??? ??????

13

• ?????
• ????(tandem duplication) ??????????? ???
• ????(reverse duplication)??????????? ?
• ????(displaced duplication)?????????? ????
• ???????
• ??????????(unequal crossing over) ,??????
  ??????,???????,?????????duplication,?????deletion
  

14
(No Transcript)
15

• ?????(bar eye)??????
• ???????????????(dose)??
• ????????,?????????????,???? ?779????
• ??X????????16A?
• ??( Bar eye)????????
• ??????(heterozygous bar)?????????16A?,????????16A
  ?
• ??????(homozygous bar)????????????16A?
• ????????(heterozygous double-bar)?????????16A?,??
  ??????16A
• ????????(homozygous double-bar)??????????16A?

16
(a)???(wild type) (b)??????(bar, heterozygous)
17
(c)??????(bar, homozygous)
(d)????????(double-bar heterozygous)
(e)????????(double-bar homozygous)
18

• ?bar eye?????
• ?????duplication????????,????
• ????(position effect) ?????????????
  ??(genome)????????????
• C?d ????16A?,?????????,?????

19

• ??(Inversion)
• ??????????,?180???????,????????? ?

20

• ?????
• ????(paracentric inversion) ?????????? ?
• ????(pericentric inversion) ??????????

21

• ??
• ?????,????????,????????,??? ????,??????,???????
• ???(transposon)???,????????????
• ??? (inversion loop)
• ?????,??????????,?????????,??????????? (gene by
  gene)???,????????? ?????

22
? ? ? ?
23
(No Transcript)
24
(No Transcript)
25
? ? ? ?
26

• ???????
• ?????????????,??????????,???????????
• ?????????????,??????????,?? ????????
• Inversion??????????
• ??????????, ????????????
• ?????????????,?????????

27

• ??( translocation)
• ????????????????,????????????,??????????????
• ????????????X???,???????,?? ???????????
• ???????
• ????(reciprocal translocation) ???????????????????
  
• ?????(nonreciprocal translocation)
  ???????????????????,??????

28
(No Transcript)
29
http//trc.ucdavis.edu/biosci10v/bis10v/week4/06ch
romosomestructure.html
30

• ????(Robertsonian translocation)
• ?????????(nonreciprocal translocation) ,???2N45
• ??????????,???????????,????,?????????????????
• ????????????????????(metacentric chromosome)
• ?????????? ????????,???????????????

31
(No Transcript)
32
(No Transcript)
33

• ?????(translocation Down syndrome)
• ????21???????
• ?4?????????Robertsonian location
• ???21?14???15?22????????
• ?????????????,?????????( familial Down syndrome)

34
(No Transcript)
35

• ???????
• ??????
• ?????????????,
• ??????,???????
• ?????,??????,?????????,??????????????
• ???????
• ????????????,???????,????
• ???????????????(?),?????????????(quadrupie)
  ,?????????,???????????,??? ??????(cross shape)

36

• ?????????
• ??????,????? ,???????? ???????
• ????(alternate distribution) ?????????,?????????,?
  ????
• ????(adjacent distribution) ???????????,????????,?
  ???
• ???????????0,???????????? 100
• ???????????????? 50,?????????(semisterility)
• ??????????,??????????,????????????????
• ?????????????,????????????

37
(No Transcript)
38
(No Transcript)
39

• ???????????????
• ??????????????
• ?????,????????????????????????????????????????,???
  (translocation)????(inversion)?????????
• ??????????
• ????????????,??????????????????????????????
• ????????????(genetic isolation)
  ,?????????????,?????????????????,?????
  ?????,??????,??????,????????

40

• ??????????
• ?????????,??????????,???????????
• ??????????????
• ??????????,??????????????????????
• ???????????
• ????????????????????
• ????????(clone) ?????????????????,????????,??
  ?????clone

41

• ?????????????
• ?????????(chronic myelogenous leukemia),?22???????
  ,????,????8 ??9????????????22???????????(Philadelp
  hia chromosome)
• ?????????(Wilms tumor) ?11????????????
• ?????????????????(oncogene) ?????????????????????
  ????????,?????????
• ????????,???????????????

42
(No Transcript)