Petrukhin K, Fischer S G, Pirastu M, Tanzi R E, Chernov I, Devoto M, Brzustowicz L M, Cayanis E, Vitale E, Russo J J
Department of Psychiatry, Columbia University, New York State Psychiatric Institute, New York 10032.
Nat Genet. 1993 Dec;5(4):338-43. doi: 10.1038/ng1293-338.
Wilson disease (WD) is an autosomal recessive disorder of copper transport which map 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.
威尔逊病（WD）是一种常染色体隐性铜转运障碍疾病，其基因定位于13号染色体长臂14区3带（13q14.3）。为寻找WD基因，我们构建了酵母人工染色体和黏粒重叠群，以及跨越WD基因区域的微卫星标记。对115个WD家系进行连锁不平衡和单倍型分析，将疾病位点限定在一个单一标记区间内。一个候选cDNA克隆被定位于此区间，如随附论文所示，它很可能就是WD基因。我们的单倍型和突变分析预测，在美国和俄罗斯人群中，所有WD突变约有一半将较为罕见。
