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应用ＴａｑⅠ酶解、Ｓｏｕｔｈｅｒｎ印迹及２４－１和２６－６探针分子杂交，调查了上海地区汉族随机样本Ｄ１６Ｓ８０和Ｄ１６Ｓ１２５两位点的ＲＦＬＰ，并以此对常染色体显性遗传的成人多囊肾家系风险成员试作症状前诊断。结果表明，在上海地区汉族人群中Ｄ１６Ｓ８０位点有Ｂ１（３．８ｋｂ）和Ｂ２（１．５／１．３ｋｂ）两个分子等位基因，其频率分别为０．７２５和０．２７５．ＰＩＣ０．３２，未见欧洲白人中检出的Ｂ３（１．５ｋｂ）等位基因；Ｄ１６Ｓ１２５位点有Ｅ＇１（５．８／２．５ｋｂ）、Ｅ２（０．８５ｋｂ）和Ｅ３（２．５ｋｂ）三个分子等位基因，其频率分别为０．２５８１、０．６９３５和０．０４８４，ＰＩＣ０．３９，Ｅ＇１不同于欧洲白人中的Ｅ１（５．８ｋｂ）在于另有２．５ｋｂ伴行，Ｅ３也是一个在我国汉族人群中新发现的等位基因。Ｘ和Ｈ两个家系的连锁分析证明我国成人多囊肾与Ｂ２分子等位基因连锁。Ｈ家系成员Ⅲ１确诊为ＰＫＤ１基因携带者，宜及早采取预防措施。
The RFLPs of two random loci of D16S80 and D16S125 were investigated by TaqⅠ digestion, Southern blotting and 24-1 and 26-6 probe hybridization, and then the autosomal dominant adult polycystic kidney Pedigree risk members pre-diagnosis symptoms. The results showed that there are B1 (3.8kb) and B2 (1.5 / 1.3kb) alleles in D16S80 locus in Shanghai Han population, with frequencies of 0.725 and 0.275, respectively. No PIC3 (1.5 kb) allele was detected in European whites; E’1 (5.8 / 2.5 kb), E2 (0.85 kb) and E3 (2) were found at D16S125 sites. 5kb) three molecular alleles at frequencies of 0.2581, 0.6935 and 0.0484, respectively, with PIC 0.39, E’1 different from E1 (5.8 kb) in European whites at 2.5 kb Accompanying, E3 is also a newly discovered allele in Han Chinese population. The linkage analysis of two families of X and H proved that adult adult polycystic kidney disease and B2 molecular allele linkage. H family members Ⅲ 1 diagnosis of PKD1 gene carriers, should take precautionary measures as soon as possible.