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德国人群中亨廷顿病区域多态性DNA标记的等位基因频率及连锁不平衡

Allele frequencies and linkage disequilibrium of polymorphic DNA markers of the Huntington disease region in the German population.

作者信息

Thies U, Bockel B, Gerdes B, Schröder K

机构信息

Institut für Humangenetik der Universität Göttingen, Germany.

出版信息

Hum Genet. 1993 Dec;92(6):593-7. doi: 10.1007/BF00420945.

Abstract

Allele frequencies of 14 different restriction fragment length polymorphisms from 12 DNA markers within the Huntington disease (HD) region were evaluated in the German population. No significant differences from published data of allele frequencies from chromosomes of Caucasian ancestry were found. The analysis of eight DNA polymorphisms in 87 HD families of German origin revealed significant non-random association with the HD locus and the D4S95 locus (p674/AccI/MboI), a result that is consistent with all other published studies. These results are confirmed by the fact that the HD gene maps to this region.

摘要

在德国人群中评估了亨廷顿病(HD)区域内12个DNA标记的14种不同限制性片段长度多态性的等位基因频率。未发现与白种人祖先染色体的等位基因频率已发表数据存在显著差异。对87个德国裔HD家族中的8种DNA多态性分析显示,其与HD基因座和D4S95基因座(p674/AccI/MboI)存在显著的非随机关联,这一结果与所有其他已发表研究一致。HD基因定位于该区域这一事实证实了这些结果。

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