Spinocerebellar ataxia in a large kindred

Spinocerebellar ataxia in a large kindred
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大家族的脊髓小脑共济失调

DOI：
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发表时间：
1984
期刊：
Neurology
影响因子：
9.9
通讯作者：
V. Anderson
V. Anderson
中科院分区：
医学1区
文献类型：
--
作者：
J. Haines;L. Schut;L. Weitkamp;Mark Thayer;V. Anderson

文献摘要

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我们研究了一个大的常染色体显性遗传脊髓小脑共济失调（SCA）的亲属，以评估生殖性能，遗传咨询的影响，SCA位点的连锁关系。在那些与SCA比未受影响的同胞或堂兄弟姐妹的繁殖率并不低。遗传咨询减少了在SCA发展的风险期内的生殖。鉴于单基因的常染色体显性遗传，我们发现了强有力的证据表明，在这个家族的SCA位点是连锁的HLA位点。
We studied a large kindred with autosomal dominant spinocerebellar ataxia (SCA) to assess reproductive performance, the impact of genetic counseling, and linkage relationships of the SCA locus. Reproduction was not lower in those with SCA than in unaffected sibs or first cousins. Genetic counseling reduced reproduction during the risk period for development of SCA. Given autosomal dominant transmission of a single gene, we found strong evidence that the locus for SCA in this kindred is linked to the HLA loci.