与成人多囊肾病PKD1紧密连锁的四种微卫星DNA在中国人群中的多态性

POLYMORPHISMS OF FOUR MICROSATELLITE MARKERS CLOSELY LINKED WITH PKD1 IN CHINESE

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。

Objective To investigate the polymorphisms and evaluate the value in gene diagnosis of four microsatellites, which are the KG8 that locating in 3′untranslated region of PKD1 and SM6, CW4 and CW2, closely linked to PKD1.Methods The DNAs of some unrelated Chinese Han people were analyzed by using PCR, PAGE and silver staining and the findings were compared with those reported on Caucasian.Results In Chinese, KG8 inclueded 6 alleles and PIC was 0.312; in Caucasian, 8 alleles, PIC 0.545. The number of allele and PIC of KG8 in Chinese were not so many as those in Caucasian. SM6 included 24 kinds of alleles and PIC was 0.80 in Chinese; in Caucasian, 16 alleles, PIC 0 653. CW4 is 9 alleles in Chinese and PIC of SM6 were more than those in Caucasian. In Chinese CW4, q alleles, PIC 0.850; in Caucasian, 9 alleles, PIC 0.782. Although the number of CW4 allele in the two nations was the same, PIC in Chinese was higher than that in Caucasian. In Chinese, CW2, 7 alleles, PIC 0.814;and in Caucasian,13 alleles, PIC 0.809. The number of allele of CW2 in Chinese was not so many as that in Caucasian; however, the PIC was about the same.Conclusion The results indicate that there are differences in the number of allele and distribution of the four microsatellite markers between Chinese and Caucasian. So there exists difference of dinucleotide repeat between two nations. In addition, SM6,CW4 and CW2 could be used as valuable markers in gene linkage diagnosis and personal and related identification in forensic medicine.