Non-random association between alleles detected at D4S95 and D4S98 and the Huntington's disease gene.
Non-random association between alleles detected at D4S95 and D4S98 and the Huntington's disease gene.
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D4S95 和 D4S98 检测到的等位基因与亨廷顿舞蹈病基因之间存在非随机关联。
DOI：
10.1136/jmg.26.11.676
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发表时间：
1989
影响因子：
4
通讯作者：
Wasmuth,JJ
中科院分区：
文献类型：
--
作者：
Theilmann,J;Kanani,S;Shiang,R;Robbins,C;Quarrell,O;Huggins,M;Hedrick,A;Weber,B;Collins,C;Wasmuth,JJ
对许多具有连锁DNA标记的家族的分析为亨廷顿病（HD）基因靠近4号染色体短臂上的端粒提供了支持。然而，在特定的家庭重组事件的分析提供了相互矛盾的结果HD基因相对于这些紧密连锁的DNA标记的精确位置。在这里，我们报告了调查的连锁不平衡之间的六个DNA标记和HD基因在75个不同的祖先独立的家庭。我们发现在D4S95和D4S98检测到的等位基因与突变基因之间存在显著的非随机关联。这些数据表明，有可能构建高风险和低风险单倍型，这可能有助于HD的DNA分析和遗传咨询，并代表独立的证据表明，HD的基因是着丝粒到更远的DNA标记，如D4S90。这些信息可能有助于根据HD基因在人类基因组中的位置来确定克隆HD基因的策略。
Analysis of many families with linked DNA markers has provided support for the Huntington's disease (HD) gene being close to the telomere on the short arm of chromosome 4. However, analysis of recombination events in particular families has provided conflicting results about the precise location of the HD gene relative to these closely linked DNA markers. Here we report an investigation of linkage disequilibrium between six DNA markers and the HD gene in 75 separate families of varied ancestry. We show significant non-random association between alleles detected at D4S95 and D4S98 and the mutant gene. These data suggest that it may be possible to construct high and low risk haplotypes, which may be helpful in DNA analysis and genetic counselling for HD, and represent independent evidence that the gene for HD is centromeric to more distally located DNA markers such as D4S90. This information may be helpful in defining a strategy to clone the gene for HD based on its location in the human genome.