MAPPING, CLONING AND GENETIC-CHARACTERIZATION OF THE REGION CONTAINING THE WILSON DISEASE GENE
MAPPING, CLONING AND GENETIC-CHARACTERIZATION OF THE REGION CONTAINING THE WILSON DISEASE GENE
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DOI：
10.1038/ng1293-338
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发表时间：
1993-12-01
期刊：
影响因子：
30.8
通讯作者：
GILLIAM, TC
中科院分区：
文献类型：
--
作者：
PETRUKHIN, K;FISCHER, SG;GILLIAM, TC
Wilson病（WD）是一种常染色体隐性遗传性铜转运障碍，定位于染色体13q14.3。为了寻找WD基因，我们开发了酵母人工染色体和粘粒重叠群，以及跨越WD基因区域的微卫星标记。对115个WD家系的连锁不平衡和单倍型分析将该位点限制在一个标记区间内。一个候选的cDNA克隆被定位到这个区间，如所附的论文中所示，很可能是WD基因。我们的单倍型和突变分析预测，大约一半的WD突变在美国和俄罗斯人群中是罕见的。
Wilson disease (WD) is an autosomal recessive disorder of copper transport which maps to chromosome 13q14.3. In pursuit of the WD gene, we developed yeast artificial chromosome and cosmid contigs, and microsatellite markers which span the WD gene region. Linkage disequilibrium and haplotype analysis of 115 WD families confined the disease locus to a single marker interval. A candidate cDNA clone was mapped to this interval which, as shown in the accompanying paper, is very likely the WD gene. Our haplotype and mutation analyses predict that approximately half of all WD mutations will be rare in the American and Russian populations.