威尔逊病的单倍型研究。
Haplotype studies in Wilson disease.
作者信息
Thomas G R, Bull P C, Roberts E A, Walshe J M, Cox D W
机构信息
Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada.
出版信息
Am J Hum Genet. 1994 Jan;54(1):71-8.
In 51 families with Wilson disease, we have studied DNA haplotypes of dinucleotide repeat polymorphisms (CA repeats) in the 13q14.3 region, to examine these markers for association with the Wilson disease gene (WND). In addition to a marker (D13S133) described elsewhere, we have developed three new highly polymorphic markers (D13S314, D13S315, and D13S316) close to the WND locus. We have examined the distribution of marker alleles at the loci studied and have found that D13S314, D13S133, and D13S316 each show nonrandom distribution on chromosomes carrying the WND mutation. We have studied haplotypes of these three markers and have found that there are highly significant differences between WND and normal haplotypes in northern European families. These findings have important implications for mutation detection and molecular diagnosis in families with Wilson disease.
在51个患有威尔逊氏病的家庭中，我们研究了13q14.3区域二核苷酸重复多态性（CA重复）的DNA单倍型，以检测这些标记与威尔逊氏病基因（WND）的关联性。除了其他地方描述的一个标记（D13S133）外，我们还开发了三个靠近WND基因座的新的高度多态性标记（D13S314、D13S315和D13S316）。我们研究了所研究位点的标记等位基因分布，发现D13S314、D13S133和D13S316在携带WND突变的染色体上均呈现非随机分布。我们研究了这三个标记的单倍型，发现在北欧家庭中，WND单倍型与正常单倍型之间存在高度显著差异。这些发现对威尔逊氏病家庭的突变检测和分子诊断具有重要意义。
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