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在荷兰人群中,亨廷顿舞蹈症基因与D4S10和D4S95基因座之间存在显著的连锁不平衡。

Significant linkage disequilibrium between the Huntington disease gene and the loci D4S10 and D4S95 in the Dutch population.

作者信息

Skraastad M I, Van de Vosse E, Belfroid R, Höld K, Vegter-van der Vlis M, Sandkuijl L A, Bakker E, van Ommen G J

机构信息

Department of Human Genetics, Leiden University, The Netherlands.

出版信息

Am J Hum Genet. 1992 Oct;51(4):730-5.

Abstract

Significant linkage disequilibrium has been found between the Huntington disease (HD) gene and DNA markers located around D4S95 and D4S98. The linkage-disequilibrium studies favor the proximal location of the HD gene, in contrast to the conflicting results of recombination analyses. We have analyzed 45 Dutch HD families with 19 DNA markers and have calculated the strength of linkage disequilibrium. Highly significant linkage disequilibrium has been detected with D4S95, consistent with the studies in other populations. In contrast with most other studies, however, the area of linkage disequilibrium extends from D4S10 proximally to D4S95, covering 1,100 kb. These results confirm that the HD gene most likely maps near D4S95.

摘要

在亨廷顿舞蹈症(HD)基因与位于D4S95和D4S98附近的DNA标记之间发现了显著的连锁不平衡。与重组分析的矛盾结果相反,连锁不平衡研究支持HD基因位于近端。我们用19个DNA标记分析了45个荷兰HD家系,并计算了连锁不平衡的强度。已检测到与D4S95存在高度显著的连锁不平衡,这与其他人群的研究结果一致。然而,与大多数其他研究不同的是,连锁不平衡区域从近端的D4S10延伸至D4S95,覆盖1100 kb。这些结果证实HD基因很可能定位于D4S95附近。

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