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目的获得H19基因上游差异性甲基化区中SNPs的群体遗传学信息。方法采用PCR和测序技术,对105例中国北方汉族健康无关个体H19上游启动子区检测;使用Haploview 4.1和PowerStats V12软件进行统计学分析。选用甲基化敏感的限制内切酶(msRE)HpaⅡ,检测5个家系样本H19等位基因的亲代来源。结果测序结果显示,H19启动子区含有13个SNPs,组成5种单倍型,13种单倍型组合,其个体识别能力为0.856、多态性信息含量为0.67、非父排除率为0.498。经msRE HpaⅡ消化母源等位基因后,进行PCR及测序分析,检测出父源等位基因,排除1例和肯定4例家系的亲缘关系。结论 DNA甲基化标记和SNPs多态性检测,可同时进行多态性分型并确定等位基因的亲代来源,具有较高的法医学应用价值。
Objective To obtain the population genetic information of SNPs in the differential methylation region of H19 gene. Methods PCR and sequencing were used to detect the upstream promoter regions of H19 in 105 Han Chinese unrelated healthy individuals. Haploview 4.1 and PowerStats V12 software were used for statistical analysis. Methylation-sensitive restriction enzyme (msRE) HpaII was used to detect the origin of H19 alleles in 5 pedigree samples. Results The sequencing results showed that there were 13 SNPs in the promoter region of H19, consisting of 5 haplotypes and 13 haplotypes. The individual identification ability was 0.856, the polymorphism information content was 0.67, and the non-parent exclusion rate was 0.498. The alleles of maternal allergen were digested with msRE HpaII, PCR and sequencing analysis were carried out to detect the parental alleles, excluding one case and affirming the genetic relationship of four cases. Conclusion The detection of DNA methylation markers and SNPs polymorphism can be used to genotype polymorphism and determine the origin of alleles. It is of high forensic value.