存在第四个常染色体显性遗传脊髓小脑共济失调基因座的证据。

Evidence for the existence of a fourth dominantly inherited spinocerebellar ataxia locus.

作者信息

Lopes-Cendes I, Andermann E, Rouleau G A

机构信息

Centre for Research in Neuroscience, Montreal Neurological Institute and Hospital, Quebec, Canada.

出版信息

Genomics. 1994 May 1;21(1):270-4. doi: 10.1006/geno.1994.1257.

DOI:10.1006/geno.1994.1257

PMID:8088802

Abstract

The autosomal dominantly inherited spinocerebellar ataxias (SCAs) are a heterogeneous group of disorders. To date, three loci have been identified: the SCA1 locus (on chr 6p), the SCA2 locus (on chr 12q), and more recently a Machado-Joseph disease (MJD) locus (on chr 14q). We have studied one large French-Canadian kindred with four generations of living affected individuals segregating an autosomal dominant form of SCA. Linkage analysis using anonymous DNA markers that flank the three previously described loci significantly exclude the French-Canadian kindred from the SCA1, SCA2, and MJD loci. Therefore, a fourth, still unmapped SCA locus remains to be identified. In addition, the unique clinical phenotype present in all affected individuals of the French-Canadian kindred might be characteristic of this still unmapped SCA locus.

摘要

常染色体显性遗传的脊髓小脑共济失调（SCA）是一组异质性疾病。迄今为止，已确定了三个基因座：SCA1基因座（位于6号染色体短臂）、SCA2基因座（位于12号染色体长臂），以及最近发现的马查多-约瑟夫病（MJD）基因座（位于14号染色体长臂）。我们研究了一个法裔加拿大家族，该家族有四代在世的患病个体，其SCA呈常染色体显性遗传方式。使用位于上述三个基因座侧翼的匿名DNA标记进行连锁分析，结果显著排除了该法裔加拿大家族与SCA1、SCA2和MJD基因座的连锁关系。因此，第四个尚未定位的SCA基因座有待确定。此外，法裔加拿大家族所有患病个体所呈现的独特临床表型可能是这个尚未定位的SCA基因座的特征。