在一例散发性亨廷顿舞蹈病病例中对包含重组位点的50千碱基DNA片段的描绘。

Delineation of a 50 kilobase DNA segment containing the recombination site in a sporadic case of Huntington's disease.

作者信息

Weber B, Riess O, Wolff G, Andrew S, Collins C, Graham R, Theilmann J, Hayden M R

机构信息

Department of Medical Genetics, University of British Columbia, Vancouver, Canada.

出版信息

Nat Genet. 1992 Nov;2(3):216-22. doi: 10.1038/ng1192-216.

DOI:10.1038/ng1192-216

PMID:1345172

Abstract

No detectable rearrangements involving chromosome 4p16.3 have been observed in patients with Huntington's disease (HD). New mutations for HD could involve structural alterations which might aid the localization of the defective gene. We have reinvestigated a well documented sporadic case of HD. DNA haplotyping with markers between D4S10 and the telomeric locus D4S141 reveals a recombination event in one chromosome of the sporadic HD patient. The site of recombination maps within a 50 kilobase (kb) region, about 700 kb from the 4p telomere. Based on the extremely low HD mutation rate and significantly decreased recombination in the distal region of 4p, we hypothesize a direct link between the site of the recombination and HD in this patient.

摘要

在亨廷顿舞蹈症（HD）患者中，未观察到涉及染色体4p16.3的可检测重排。HD的新突变可能涉及结构改变，这可能有助于缺陷基因的定位。我们重新研究了一个记录完备的散发性HD病例。用位于D4S10和端粒位点D4S141之间的标记进行DNA单倍型分析，发现该散发性HD患者的一条染色体上有一个重组事件。重组位点定位在一个50千碱基（kb）的区域内，距离4p端粒约700 kb。基于极低的HD突变率以及4p远端区域重组的显著减少，我们推测该患者中重组位点与HD之间存在直接联系。