通过限制性片段长度多态性分析进行肝豆状核变性的携带者检测和早期诊断。
Carrier detection and early diagnosis of Wilson's disease by restriction fragment length polymorphism analysis.
作者信息
Figus A, Lampis R, Devoto M, Ristaldi M S, Ideo A, de Virgilis S, Nurchi A M, Corrias A, Corda R, Lai M E
机构信息
Istituto di Medicina Interna, Università degli Studi di Cagliari, Genova, Italy.
出版信息
J Med Genet. 1989 Feb;26(2):78-82. doi: 10.1136/jmg.26.2.78.
Wilson's disease, a rare autosomal recessive disorder, has been recently mapped to the long arm of chromosome 13 (q14.1). In this study, we carried out linkage analysis between three chromosome 13 DNA markers, D13S1, D13S10, D13S2, the locus for the red cell enzyme esterase D (ESD), and the Wilson's disease locus (WND) in 17 Wilson's disease families of Italian descent, mostly from Sardinia. We confirmed a tight linkage [theta = 0.00, Z (theta) = 4.07] between the WND and ESD loci, and provided suggestive evidence for linkage [theta = 0.00, Z(theta) = 1.85] of the WND locus with D13S10. Multipoint linkage analysis indicated the following order: centromere-D13S1-D13S10-WND-ESD-D13S2. RFLP analysis at these two loci in our families allowed us either to define the carrier status (50%) or to exclude the homozygous state (25%) in the great majority of unaffected sibs.
威尔逊氏病是一种罕见的常染色体隐性疾病，最近已被定位到13号染色体长臂（q14.1）。在本研究中，我们对来自意大利裔、大多来自撒丁岛的17个威尔逊氏病家族，进行了13号染色体上的三个DNA标记D13S1、D13S10、D13S2、红细胞酶酯酶D（ESD）基因座以及威尔逊氏病基因座（WND）之间的连锁分析。我们证实了WND和ESD基因座之间存在紧密连锁[θ = 0.00，Z（θ）= 4.07]，并提供了WND基因座与D13S10连锁的提示性证据[θ = 0.00，Z（θ）= 1.85]。多点连锁分析表明顺序如下：着丝粒-D13S1-D13S10-WND-ESD-D13S2。对我们家族中这两个基因座的限制性片段长度多态性（RFLP）分析，使我们能够在绝大多数未受影响的同胞中确定携带者状态（50%）或排除纯合状态（25%）。
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