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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。
Southern blot was used to analyze the Msp I fragment length polymorphism (RFL) analysis of four Wilson’s disease (WD) pedigrees and 10 normal D13S4 loci in Chinese population by plE8 probe on 13q22-31. The results showed that the frequencies of A and B hybrids were 46.9% and 53.1%, respectively, which was consistent with the frequency of 0.49 / 0.51 reported in foreign countries. At the same time, the frequency and normal human appearance of A and B hybrids Compared with the statistical analysis, x ~ 2 = 0.026 <3.8, P> 0.05. No significant difference. We also discussed the WD genetic heterogeneity, linkage disequilibrium and the preclinical diagnosis of WD family members in Chinese population, and provided a scientific basis for the study of WD gene and gene level.