【摘要】 用Southern blot技术,以13q22-31上的plE8探针对中国人群中4个Wilson病(WD)家系和10例正常人D13S4区见MspⅠ酶切片段长度多态性(RFL)分析。结果表明:A、B两杂交片段出现的频率分别为46.9％和53.1％,这和国外报道的频率0.49/0.51是一致的,同时对WD家系成员A、B两杂交片段出现频率和正常人相比较,经统计学处理,x~2=0.026<3.8,P>0.05。无显著性差异。并对中国人群中WD遗传异质性、连锁不平衡以及WD家系成员的临床前诊断做了探讨,为WD基因的研究和基因水平的诊断提供了科学依据。更多还原

【Abstract】 Wilson’s disease (WD) is an autosomal recessive genetic disorder. The genetic locus for WD has been assigned to 18ql4-21 recently, but genetic heterogeneity in the etiology of WD has been proposed. By Southern blot and autoradiographic techniques, we used the plE8 probe, a polymorphic marker, on 13q22-31, to analyze the restriction fragment length polymorphism within the D18S4 region. in four WD family members and ten random normal persons in China. The results showed two Mspl restriction fragments: 7.4kb (A) and 10.1kb (B). The frequency of A/B is 47.2^/52.8%, which is similar to that in the literature. The frequencies of A/B are no significant difference when compared between WD family members and normal persons. All this indicates that there is no genetic disequilibrium between plE8 and the WD gene. On the other hand, according to the RFLPs of WD family members, we can make preclinical diagnoses for them. To sum up, in those four WD families, plE8 is closely linked with the WD gene. No genetic heterogeneity has been found.更多还原