中国汉族人群21号染色体上3个STR位点的多态性分析  

Genetic polymorphism of 3 STR loci on chromosome 21 in Chinese Han population

作　　者：邹永新[1] 龚瑶琴[1] 张锡宇[1] 郭辰虹[1] 高贵敏[1] 陈丙玺[1] 

机构地区：[1]山东大学医学院医学遗传学研究所,山东济南250012

出　　处：《山东大学学报（医学版）》2004年第6期621-624,628,共5页Journal of Shandong University:Health Sciences

基　　金：山东省十大科技示范工程项目资助。

摘　　要：目的:分析中国汉族人群21号染色体上3个短串联重复序列穴shorttandemrepeat熏STR雪的等位基因及基因型分布情况。方法:采用PCR扩增技术和聚丙烯酰胺凝胶电泳方法分析100名中国汉族人21号染色体上D21S11、D21S1435、D21S2055位点的遗传多态性。结果:在中国汉族人群中,D21S11、D21S1435、D21S2055位点分别检出7、6和18个等位基因,18、17和56种基因型,杂合度分别为73%、82%和91%。结论:中国汉族人群中21号染色体的3个STR位点有较好的多态性熏其基因型频率分布符合Hardy鄄Weinberg平衡。Objective: To analyze the genetic polymorphism of 3 STR loci on chromosome 21 in Chinese Han population. Methods: Polymerase chain reaction-single strand length polymorphism(PCR-SLP) was used to genotype 100 randomly collected unrelated individuals of the Han nationality at 3 STR loci(D21S11,D21S1435 and D21S2055) on chromosome 21. Results: Seven alleles and 18 genotypes, 6 alleles and 17 genotypes and 18 alleles and 56 genotypes were observed at D21S11, D21S1435, and D21S2055, respectively. The heterozygosities for the 3 STR loci were 73%, 82%, and 91%, respectively. Conclusion: The distribution of allele frequencies of 3 STR loci on chromosome 21 is consistent with the Hardy-Weinberg equilibrium and the highly genetic polymorphism is observed in Chinese Han population.

关 键 词：染色体 人 21对 短串联重复序列 遗传多态性 

分 类 号：Q347[生物学—遗传学]