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目的为了评估成人多囊肾病ＰＫＤ１基因内的微卫星ＤＮＡＫＧ８及与ＰＫＤ１紧密连锁的微卫星ＳＭ６、ＣＷ４和ＣＷ２在基因诊断中的有效性。方法采用ＰＣＲ、聚丙烯酰胺凝胶电泳（ＰＡＧＥ）和银染法分析了部分无血缘关系的中国汉族人。结果在中国汉族人群中ＫＧ８有６种等位片段，其多态信息量（ＰＩＣ）为０．３１２；ＳＭ６具有２４种等位片段，其ＰＩＣ为０．８０；ＣＷ４有９种片段，ＰＩＣ为０．８５０；ＣＷ２有７种，ＰＩＣ为０．８１４。而白种人中ＫＧ８有８种，ＰＩＣ为０．５４５；ＳＭ６有１６种，ＰＩＣ为０．６５３；ＣＷ４有９种，ＰＩＣ为０．７８２；ＣＷ２有１３种，ＰＩＣ为０．８０９。结论研究人群与文献报道的白种人群相比，这四种微卫星在种类和分布上均有差异，表明二核苷酸重复在不同民族中存在差异；ＳＭ６、ＣＷ４和ＣＷ２是高度多态的遗传标记，可用于ＡＰＫＤ的连锁基因诊断、法医学上的个体鉴定和亲权鉴定
Objective To evaluate the effectiveness of microsatellite DNAKG8 and microsatellite SM6, CW4 and CW2, which are closely linked to PKD1, in the gene diagnosis of adult polycystic kidney disease (PKD1) gene in PKD1. Methods Chinese Han nationality with no blood relationship was analyzed by PCR, polyacrylamide gel electrophoresis (PAGE) and silver staining. Results There were 6 alleles of KG8 in Chinese Han population, the polymorphism informative quantity (PIC) was 0.312, SM6 had 24 alleles, PIC was 0.80, CW4 was 9, PIC was 0.850; CW2 has 7 kinds, PIC is 0.814. There are 8 KG8s in Caucasian, PIC is 0.545, 16 are SM6, PIC is 0.653, 9 are CW4, PIC is 0.782, 13 are CW2 and PIC is 0.809. Conclusion There are differences in the types and distributions of these four microsatellites between the study population and the white population reported in the literature, indicating that dinucleotide repeats differ in different ethnic groups. SM6, CW4 and CW2 are highly polymorphic Genetic markers, chain diagnostics for APKD, forensic identification and paternity testing