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在北爱尔兰,亨廷顿舞蹈症基因座与位于D4S10、D4S95和D4S111基因座的标记之间存在显著的连锁不平衡。

Significant linkage disequilibrium between the Huntington's disease locus and markers at loci D4S10, D4S95, and D4S111 in Northern Ireland.

作者信息

Morrison P J, Graham C A, Nevin N C

机构信息

Department of Medical Genetics, Queen's University of Belfast, Belfast City Hospital, Northern Ireland.

出版信息

J Med Genet. 1993 Dec;30(12):1018-9. doi: 10.1136/jmg.30.12.1018.

Abstract

An analysis of the Northern Ireland Huntington's disease (HD) population of 75 families showed significant linkage disequilibrium between the HD gene and DNA markers at D4S95, D4S10, and D4S111. As the linkage disequilibrium at loci D4S10 and D4S111 is different from previous studies in the UK, but similar at locus D4S95, this suggests either that the HD mutation(s) in the Northern Ireland and British populations is not of common origin or that the haplotype of the common HD mutation has changed over time subsequent to divergence from a common origin.

摘要

对北爱尔兰75个家庭的亨廷顿舞蹈症(HD)群体进行的分析显示,HD基因与位于D4S95、D4S10和D4S111的DNA标记之间存在显著的连锁不平衡。由于位于D4S10和D4S111位点的连锁不平衡与英国此前的研究不同,但在D4S95位点相似,这表明要么北爱尔兰和英国群体中的HD突变并非共同起源,要么共同HD突变的单倍型在从共同起源分化后随时间发生了变化。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1e04/1016636/27ecc0d11b54/jmedgene00014-0048-a.jpg

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