论文部分内容阅读
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 value of HapMap database in Jiangsu Han population (JS). Methods A total of 172 unrelated healthy physical examination adolescents from Han nationality in Jiangsu Province were enrolled in this study. Nine SNPs in Matrilin-1 gene were selected for genotyping by PCR-RFLP. Beijing Han population (CHB), Japan (JPT) , CHB + JPT, European (CEU) and African (YRI) allele frequency, linkage disequilibrium structure and haplotype frequency. The tag SNPs (r2≥0.8) were selected as reference for JS, CHB, JPT, CHB + JPT, CEU and YRI respectively, and the differences were compared. Results Compared with the allele frequency, linkage disequilibrium structure and haplotype frequency of JS, the correlation degree of CHB in HapMap database was the highest. Compared with the SNPs selected by reference to each species, the SNPs of the tag selected by JS and CHB + JPT were exactly the same. Conclusion CHB typing data in HapMap database can serve as a reference database for the study of complex disease polymorphism in JS population.