CAG EXPANSIONS IN A NOVEL GENE FOR MACHADO-JOSEPH DISEASE AT CHROMOSOME 14Q32.1
CAG EXPANSIONS IN A NOVEL GENE FOR MACHADO-JOSEPH DISEASE AT CHROMOSOME 14Q32.1
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DOI：
10.1038/ng1194-221
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发表时间：
1994-11-01
期刊：
影响因子：
30.8
通讯作者：
KAKIZUKA, A
中科院分区：
文献类型：
--
作者：
KAWAGUCHI, Y;OKAMOTO, T;KAKIZUKA, A
我们已经确定了一个新的基因含有CAG重复序列，并将其定位到染色体14q32.1，马查多-约瑟夫病（MJD）的遗传位点。在正常个体中，该基因包含13至36个CAG重复，而大多数临床诊断的患者和具有临床和病理诊断的MJD家族的所有受影响成员显示重复数的扩增（从68-79）。Southern杂交分析和基因组克隆证实了相关基因的存在。这些结果提出了相关基因的类似异常可能导致类似于MJD的疾病的可能性。
We have identified a novel gene containing CAG repeats and mapped it to chromosome 14q32.1, the genetic locus for Machado-Joseph disease (MJD). In normal individuals the gene contains between 13 and 36 CAG repeats, whereas most of the clinically diagnosed patients and all of the affected members of a family with the clinical and pathological diagnosis of MJD show expansion of the repeat-number (from 68-79). Southern blot analyses and genomic cloning demonstrates the existence of related genes. These results raise the possibility that similar abnormalities in related genes may give rise to diseases similar to MJD.