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BALB

32.6Mb D1MIT70 115.3Mb D1MIT187. 193.8Mb D1MIT511. 267k-151M B 6. BALB. F2. 1 2 3 4 5 6 7 8. a d h. a d H. A d H. a d h. a d H. a d h. a D H. A D H. a D H.

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BALB

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  1. 32.6Mb D1MIT70 115.3Mb D1MIT187 193.8MbD1MIT511 267k-151M B6 BALB F2 1 2 3 4 5 6 7 8 a d h a d H A d H a d h a d H a d h a D H A D H a D H A D H A D H A D H A D H a D H A D H A D H

  2. affected

  3. Figure 4. The ataxia phenotype is linked to a 8.0-Mb region on the proximal end of chromosome 18 0~11.6 0~15.3Mb 0~8.04Mb 0~28.3 All non-affected     ↑Transthyretin Rxxx ↓

  4. non-waddling waddling Gene expression arrays of the cerebellum ↑Transthyretin Rxxx ↓

  5. 與 Microarray data 比較 Up-regulation down-regulation Rxxx ↓832倍 Rxxx ↓ 84倍

  6. Rxxx 4.7K ex1 ex2 F R F0 B0 Ex2-F EX2-R -10000 -5000 B2 F2 B7 F7 B6 F6 B4 F4 F3 B0 B12 F12 B5 -8K -6K Intron +3K -7K -9K x x      deletion deletion? deletion? 160 161 162 167 170 180 b 160 161 162 167 170 180 b 160 161 162 167 170 180 b normal waddling normal waddling normal waddling F6+B6 = 219bp F8+B8 = 286bp F4+B4 = 161bp PsyLab,20071016,chihya PsyLab,20071016,chihya

  7. Rxxx 4.7K ex1 ex2 F R F0 B0 Ex2-F EX2-R -10000 -5000 B2 F2 B7 F7 B6 F6 B4 F4 F3 B0 B12 F12 B5 -8K -6K Intron +3K -7K -9K x x      deletion deletion? deletion? 160 161 162 167 170 180 b b 170 162 b 170 162 normal waddling 1200 gel purification => sequence F6+B12 最多 6000bp anneal , extension 都是 1min30sec anneal 改回45’C anneal 由 45’C => 50’C PsyLab,20071016,chihya

  8. Rxxx ex1 ex2 B12 F6 -1796 -1742 -4861 +3495 deletion deletion Rxxx 55bp no promoter no exon1 ex2 (1)deletion1 : 從exon1 -1796bp ~ -4681bp (2)deletion2 : 從exon1 -1743bp ~ intron1 +3495 (3)Inversion : 從exon1 -1743bp ~ -1796(55bp)

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