Haines J L, Schut L J, Weitkamp L R, Thayer M, Anderson V E
Neurology. 1984 Dec;34(12):1542-8. doi: 10.1212/wnl.34.12.1542.
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.
我们研究了一个患常染色体显性遗传性脊髓小脑共济失调（SCA）的大家系，以评估生殖能力、遗传咨询的影响以及SCA基因座的连锁关系。SCA患者的生殖能力并不低于未患病的同胞或一级亲属。遗传咨询降低了SCA发病风险期内的生殖能力。鉴于单一基因的常染色体显性遗传，我们发现有力证据表明该家系中SCA的基因座与HLA基因座连锁。
