威尔逊氏病基因定位于13号染色体：与酯酶D位点连锁。
Assignment of the gene for Wilson disease to chromosome 13: linkage to the esterase D locus.
作者信息
Frydman M, Bonné-Tamir B, Farrer L A, Conneally P M, Magazanik A, Ashbel S, Goldwitch Z
出版信息
Proc Natl Acad Sci U S A. 1985 Mar;82(6):1819-21. doi: 10.1073/pnas.82.6.1819.
Abstract
Wilson disease (WD) is an autosomal recessively inherited disorder of copper metabolism for which the basic defect is still unknown. Twenty-seven autosomal markers were investigated for linkage in a large inbred kindred with affected individuals in two generations. Also, serum copper and ceruloplasmin were measured on all available members. Close linkage (theta = 0.06) with a logarithm of odds (lod) score of 3.21 was found between the gene for WD and the esterase D locus. Efficient detection of linkage was made possible by the use of a multisibship inbred pedigree. The discovery of a polymorphic marker genetically linked to the WD locus has profound implications both for investigation of the primary gene defect and for clinical services.
摘要
威尔逊病（WD）是一种常染色体隐性遗传的铜代谢紊乱疾病，其根本缺陷尚不清楚。在一个有两代受影响个体的大型近交家系中，研究了27个常染色体标记的连锁情况。此外，还对所有可检测的成员测量了血清铜和铜蓝蛋白。发现WD基因与酯酶D位点之间存在紧密连锁（θ = 0.06），对数优势（lod）分数为3.21。通过使用多同胞近交系谱，实现了连锁的有效检测。发现与WD位点遗传连锁的多态性标记，对原发性基因缺陷的研究和临床服务都具有深远意义。
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