Complex inheritance of ABCR mutations in Stargardt disease:: linkage disequilibrium, complex alleles, and pseudodominance
Complex inheritance of ABCR mutations in Stargardt disease:: linkage disequilibrium, complex alleles, and pseudodominance
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DOI：
10.1007/s004390051034
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发表时间：
2000-02-01
期刊：
影响因子：
5.3
通讯作者：
Lupski, JR
中科院分区：
文献类型：
--
作者：
Shroyer, NF;Lewis, RA;Lupski, JR
Stargardt病是一种由ABCR基因突变引起的隐性传播疾病。最近报道了一个多态2828A和一个常见的西欧创始人突变2588C之间的连锁不平衡，在这里，我们证实了北美人群中的这种连锁不平衡。我们还描述了两个涉及2828A和2588C突变的复杂等位基因，并提出了从反式突变到复杂等位基因突变的临床严重程度的可能顺序。最后，我们报告了一个带有2588 C突变的家系中Stargardt病的假显性，进一步支持了ABCR突变在我们人群中的高频率携带者。
Stargardt disease is a recessively transmitted disease caused by mutations in the ABCR gene. Linkage disequilibrium has recently been reported between a polymorphism, 2828 A, and a common Western European founder mutation, 2588 C, Here, we confirm this linkage disequilibrium in a North American population. We also describe two complex alleles involving the 2828 A and 2588 C alterations and suggest a possible order of clinical severity of mutations identified in trans to the complex alleles. Finally, we report pseudodominance of Stargardt disease in a family with the 2588 C mutation, further supporting a high frequency of carriers for ABCR mutations in our population.