Wasmuth J J, Hewitt J, Smith B, Allard D, Haines J L, Skarecky D, Partlow E, Hayden M R
Department of Biological Chemistry, University of California, Irvine 92717.
Nature. 1988 Apr 21;332(6166):734-6. doi: 10.1038/332734a0.
The genetic defect in Huntington's disease (HD), an inherited neuropsychiatric disorder of unknown etiology, has not been defined. The discovery of linkage between HD and the DNA marker D4S10(G8) raised the possibility of isolating the disease gene on the basis of its chromosomal location, in addition to providing a limited presymptomatic test for the late onset disorder. But it has been difficult to isolate other DNA markers nearer to the HD gene, and this has hampered attempts to identify the disease locus and limited the applicability and accuracy of predictive testing. Recently, several new DNA markers from the region of the genome near the HD gene have been isolated using a directed cloning strategy. We describe here the characterization of one of these new markers, D4S95, a highly polymorphic locus which displays no recombination with the HD gene in the families tested. The high degree of polymorphism at this locus and its proximity to the HD gene make it extremely useful for predictive testing and as a new starting point for attempts to clone the disease gene.
亨廷顿舞蹈病（HD）是一种病因不明的遗传性神经精神疾病，其基因缺陷尚未明确。HD与DNA标记D4S10（G8）之间连锁关系的发现，除了为这种晚发性疾病提供有限的症状前检测外，还增加了根据其染色体定位分离疾病基因的可能性。但分离更靠近HD基因的其他DNA标记一直很困难，这阻碍了确定疾病位点的尝试，并限制了预测性检测的适用性和准确性。最近，采用定向克隆策略从HD基因附近的基因组区域分离出了几个新的DNA标记。我们在此描述其中一个新标记D4S95的特征，它是一个高度多态性位点，在所检测的家系中与HD基因无重组现象。该位点的高度多态性及其与HD基因的接近程度使其在预测性检测中极为有用，并成为尝试克隆疾病基因的新起点。
