67个X-SNP位点的分型检测和连锁不平衡检验

目的 筛选一组在中国汉族人群中具有法医学应用前景的X-SNP位点.方法 根据dbSNP和HapMap两个数据库提供的位点信息和频率数据从X染色体上筛选出67个候选X-SNP位点,采用多重PCR联合基质辅助激光解析电离飞行时间质谱技术检测中国汉族人群428名无关个体,获得67个候选X-SNP位点在中国汉族人群中的频率数据...

Genotyping and linkage disequilibrium analysis of 67 SNP loci on X chromosome

Objective To screen a panel of SNP loci on X chromosome（X-SNP loci） that is informative in Chinese Han population and evaluate its potential value in forensic identification.Methods Sixty-seven candidate X-SNP loci were selected according to the information on dbSNP and HapMap.Genomic DNA extracted from blood samples of 428 unrelated Chinese Han individuals were analyzed through multiplex amplification followed by matrix assisted laser desorption/ionization time-of-flight mass spectrometry,and allele frequencies of the 67 X-SNP loci were calculated.In view of the population data and situation of linkage disequilibrium,X-SNP markers promising in forensic identification were sorted out.Results Population data of the 67 X-SNP loci were obtained.Except rs12849634,no deviations from Hardy-Weinberg equilibrium could be found.Of the rest 66 X-SNP loci,two loci（rs1229078 and rs1544545） were found to be low informative（minor allele frequency0.3）.Closely linked alleles were observed at six pairs of X-SNP loci and slightly linked alleles were observed at two pairs of X-SNP loci.Fifty-two X-SNP loci showing independent inheritance and high polymorphisms were finally selected.The markers were promising in forensic identification.CPE in trio and duo cases were 0.999 999 999 96 and 0.999 999 5,respectively.CDP in female and male populations were 0.999 999 999 999 999 999 999 84 and 0.999 999 999 999 999 31,respectively.Conclusion A panel of 52 informative X-SNP loci showing independent inheritance is selected.These markers meet the needs of individual identification and relationship testing in judicially disputed cases.