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应用p5G1(γ-晶体蛋白基因)探针,对20例正常人和先天性白内障两个家系成员的γ-晶体蛋白基因区存在的多态性进行了检测。发现了国人该基因区存在3个多态性TauqI等位片段位点,可产生3种多态片段。在两个家系成员中发现了6个单体型,通过RFLPs连锁分析,未发现γ-晶体蛋白基因簇与白内障的位点有连锁关系。
Polymorphisms of the γ-crystallin gene region in 20 normal and congenital cataract families were detected using the p5G1 (γ-crystallin gene) probe. We found that there are three polymorphic TauqI allelic loci in the gene region of China, and three polymorphic fragments can be generated. Six haplotypes were found in the two pedigree members. By RFLPs linkage analysis, it was not found that the γ-crystallin gene cluster was linked to the cataract site.