对两个遗传性共济失调家族的连锁研究。
Linkage investigations in two families with hereditary ataxia.
作者信息
Van Rossum J, Veenema H, Went L N
出版信息
J Neurol Neurosurg Psychiatry. 1981 Jun;44(6):516-22. doi: 10.1136/jnnp.44.6.516.
Abstract
In two families with autosomal dominant olivopontocerebellar atrophy (type IV), 15 affected and 44 unaffected members were typed for 28 genetic markers, including HLA. The lod scores for a possible HLA linkage, plotted against recombination fractions from 0.01 to 0.4, were negative. No evidence emerged for the presence of the ataxia-locus within measurable distance of the HLA-loci on chromosome 6. No indications were obtained that the ataxia-gene is linked with one of the other marker-genes.
摘要
在两个患有常染色体显性遗传性橄榄体脑桥小脑萎缩（IV型）的家族中，对15名患者和44名未患病成员进行了包括HLA在内的28种遗传标记分型。将可能的HLA连锁的对数优势分数，针对从0.01至0.4的重组率作图，结果为阴性。未发现6号染色体上的HLA位点在可测量距离内存在共济失调基因座的证据。未获得共济失调基因与其他标记基因之一连锁的迹象。
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