Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion
Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion
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DOI：
10.1038/ng0997-65
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发表时间：
1997-09-01
期刊：
影响因子：
30.8
通讯作者：
Brice, A
中科院分区：
文献类型：
--
作者：
David, G;Abbas, N;Brice, A
脊髓小脑性共济失调7（SCA7）基因已定位于染色体3q12 - 13。通过定位克隆，我们已经确定了一个新的基因的未知功能，包含CAG重复序列，在SCA7患者扩大。在突变的等位基因上，CAG重复序列大小是高度可变的，范围从38到130个重复序列，而在正常等位基因上，它的范围从7到17个重复序列。SCA7中的性腺不稳定性大于在由翻译的CAG重复扩增引起的七种已知神经退行性疾病中的任何一种中观察到的性腺不稳定性，并且与父系传递显著相关。SCA7是第一种退行性过程也影响视网膜的疾病。
The gene for spinocerebellar ataxia 7 (SCA7) has been mapped to chromosome 3q12-13. By positional cloning, we have identified a new gene of unknown function containing a CAG repeat that is expanded in SCA7 patients. On mutated alleles, CAG repeat size is highly variable, ranging from 38 to 130 repeats, whereas on normal alleles it ranges from 7 to 17 repeats. Gonadal instability in SCA7 is greater than that observed in any of the seven known neuro-degenerative diseases caused by translated CAG repeat expansions, and is markedly associated with paternal transmissions. SCA7 is the first such disorder in which the degenerative process also affects the retina.