摘要
目的：探讨与多囊肾病基因位点１（ＰＫＤ１）连锁的两个微卫星ＫＧ８和ＣＷ２在汉族及壮族人群中的多态性及其等位基因频率是否存在群体差异。方法：用聚合酶链反应（ＰＣＲ）扩增与ＰＫＤ１连锁的两个微卫星，１００ｇ／Ｌ（１０％）非变性聚丙烯酰胺凝胶电泳检测ＰＣＲ产物。结果：ＣＷ２在汉族和壮族人群中均高度多态，而ＫＧ８多态性程度较低；２个ＫＧ８等位基因的频率及４个ＣＷ２等位基因的频率存在群体差异。结论：ＣＷ２可用于汉、壮族人ＰＫＤ１基因诊断。同时，这两个微卫星的等位基因频率分布具有群体差异，在应用它们进行基因诊断和疾病关联性研究时应引起注意。
Objective:To evaluate the polymorphism of KG8 and CW2, two microsatellite markers closely linked to the locus for polycystic kidney disease 1(PKD1), in Chinese Han (Chinese majority) and Zhuang (the largest minority in China) populations, and find out whether the allele frequencies of these markers exhibit significant differences between populations. Methods:The two microsatellite markers were amplified by polymerase chain reaction(PCR), followed by 10% nondenatured polyacrylamide gel electrophoresis(PAGE) to analyse the PCR products. Results: CW2 was highly polymorphic in both populations whereas KG8 less polymorphic. Several allele frequencies of the two markers exhibited significant differences between populations. Conclusion:CW2 can be used in genetic diagnosis of both Chinese Han and Zhuang PKD1 families. The allele frequency distribution of KG8 and CW2 between populations are significantly different and population differences should be taken into consideration in any studies associated with these polymorphisms.
出处
《北京医科大学学报》
CSCD
1998年第3期213-215,共3页
Journal of Peking University(Health Sciences)
关键词
微卫星
KG8
CW2
遗传多态性
囊性肾
DNA, satellite Kidney, polycystic/diag Polymorphism(genetics)
