Haines J L, Trofatter J A
Genet Epidemiol. 1986;3(6):399-405. doi: 10.1002/gepi.1370030604.
Heterogeneity among the spinocerebellar ataxias (SCA) has been shown on clinical, biochemical, and genetic criteria. Among the autosomal dominant SCAs, several kindreds have shown loose linkage to the HLA loci on chromosome 6, while linkage in other kindreds has been rejected. The advent of multipoint linkage analysis allows the use of several marker loci simultaneously, thus increasing the amount of usable information. We have reanalyzed linkage data from a large kindred with SCA and provide evidence for a telomeric location of the SCA gene in this family. Knowledge of the relative gene location will ease the identification of the SCA gene by reducing the size of the chromosomal regions that must be examined.
脊髓小脑共济失调(SCA)在临床、生化和遗传学标准方面已显示出异质性。在常染色体显性SCA中,几个家族已显示出与6号染色体上的HLA位点存在松散连锁,而其他家族中的连锁关系已被排除。多点连锁分析的出现使得能够同时使用几个标记位点,从而增加了可用信息的数量。我们重新分析了一个患有SCA的大家系的连锁数据,并提供证据表明该家族中SCA基因位于端粒位置。了解相关基因的位置将通过缩小必须检查的染色体区域的大小来便于SCA基因的识别。