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在两个家系中，常染色体显性遗传的HLA连锁脊髓小脑共济失调（SCA1）基因座定位于6号染色体短臂的一个8厘摩的亚区域内。

Localization of the autosomal dominant HLA-linked spinocerebellar ataxia (SCA1) locus, in two kindreds, within an 8-cM subregion of chromosome 6p.

作者信息

Ranum L P, Duvick L A, Rich S S, Schut L J, Litt M, Orr H T

机构信息

Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis 55455.

出版信息

Am J Hum Genet. 1991 Jul;49(1):31-41.

PMID:1676561
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1683207/
Abstract

Two large kindreds with HLA-linked, autosomal dominant spinocerebellar ataxia (SCA1) were examined with markers from chromosome 6p to determine the location of the SCA1 locus. Results of the three-point analysis between the markers HLA-A, SCA1, and F13A overwhelmingly favor the conclusion that SCA1 is located distal of HLA and proximal of F13A. In addition, our data strongly support the conclusion that SCA1 lies centromeric and genetically very close to the highly informative D6S89 marker within the 8-cM chromosomal segment flanked by the D6S88 and D6S89 markers. In the two kindreds, one recombinant was observed between D6S89 and SCA1, resulting in a recombination fraction of .014 between the two loci.

摘要

对两个与 HLA 连锁的常染色体显性遗传性脊髓小脑共济失调（SCA1）家系进行研究，采用 6 号染色体 p 臂上的标记来确定 SCA1 基因座的位置。对 HLA-A、SCA1 和 F13A 标记进行三点分析的结果，压倒性地支持 SCA1 位于 HLA 远端和 F13A 近端这一结论。此外，我们的数据有力地支持了 SCA1 位于着丝粒侧且在遗传上非常接近位于由 D6S88 和 D6S89 标记界定的 8 厘摩染色体区段内信息丰富的 D6S89 标记这一结论。在这两个家系中，在 D6S89 和 SCA1 之间观察到一个重组体，两个基因座之间的重组率为 0.014。

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