江苏汉族人群基因多态性与HapMap数据库的比较  

Comparison of gene polymorphisms between Jiangsu Chinese population and HapMap samples

作　　者：陈志军[1] 邱勇[1] 王斌[1] 俞杨[1] 朱泽章[1] 

机构地区：[1]南京大学医学院附属鼓楼医院脊柱外科,210008

出　　处：《江苏医药》2009年第4期410-414,共5页Jiangsu Medical Journal

基　　金：南京市中青年拔尖人才资助项目(05-341)

摘　　要：目的评价HapMap数据库在江苏汉族人群(JS)的应用价值。方法江苏地区汉族172名无血缘关系的健康体检青少年,选取Matrilin-1基因中9个标签SNPs进行PCR-RFLP基因分型,比较JS汉族人群与HapMap数据库的北京汉族(CHB)、日本(JPT)、CHB+JPT、欧洲(CEU)及非洲(YRI)的等位基因频率、连锁不平衡结构及单体型频率的差异。并分别以JS、CHB、JPT、CHB+JPT、CEU及YRI为参考选取标签SNPs(r2≥0.8为标准),比较其差异。结果与JS的等位基因频率、连锁不平衡结构及单体型频率比较,HapMap数据库中CHB相关程度最高。比较以各人种数据为参考选择的标签SNPs,以JS为参考和以CHB及CHB+JPT为参考选择的标签SNPs完全相同。结论HapMap数据库中的CHB分型数据可作为JS人群复杂疾病多态性研究的参考数据库。Objective To evaluate the transferability of HapMap data to the Jiangsu Chinese population. Methods One hundred and seventy-two unrelated Chinese individuals were recruited from Jiangsu province. Nine tagging SNPs in matrilin-1 gene were selected for genotyping by polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） method. Comparisons of allele frequencies., LD patterns and haplotype frequencies were analyzed between Jiangsu Chinese population and HapMap samples. We further assessed transferability of tSNPs selected from the reference populations. Results Among the five HapMap populations （CHB,JPT,CHB＋JPT,CEU and YRI）, CHB showed the best correlation with Jiangsu population on allele frequencies, linkage disequilibrium and haplotype frequencies. Tagging SNP sets selected from HapMap CHB and CHB ＋ JPT populations were exactly the same as those from Jiangsu Chinese sample under the threshold of r^2 equal to 0.8. Conclusion The results support the applicability of HapMap CHB SNP data to the study of complex diseases in Jiangsu Chinese population.

关 键 词：人类基因组单体型图 标签SNP 多态性 汉族 江苏 

分 类 号：R68[医药卫生—骨科学]