印记基因KCNQ1的遗传多态性及在亲权鉴定中的应用

发布时间：2018-05-26 11:16

本文选题：法医物证学 + 人类KCNQ基因　；参考：《中国法医学杂志》2008年06期

【摘要】：目的为了调查印记基因KCNQ1的STR位点在中国汉族人群中的遗传多态性,利用亲源印记等位基因(parentally imprinting allele,PIA)分型法确定孩子的等位基因亲代来源,为亲权鉴定提供新的侯选STR位点。方法应用Chelex法提取153例佳木斯地区汉族健康无血缘关系个体DNA,用QIAamp Blood Kit(Qiagen)法提取3个家庭10个个体DNA,PCR扩增,凝胶电泳分型,ABIPRISMTM3730XL DNA测序仪测序;甲基化敏感性限制性内切酶消化孩子基因组DNA,PCR扩增,确定孩子等位基因的亲代来源。结果发现在中国佳木斯地区汉族人群中KCNQ1基因的STR有7个等位基因,多态信息含量为0.662,且KCNQ1基因的STR位点呈父源印记。结论印记基因KCNQ1的STR位点有很好的多态性,可为亲权鉴定提供新的侯选遗传标记,其亲源特异性甲基化标记有望应用于单亲鉴定中。
[Abstract]:Objective to investigate the genetic polymorphism of STR locus of imprinted gene KCNQ1 in Chinese Han population, using the method of parent imprinting allelic imprinting allele PIA-typing to determine the parent origin of child alleles, and to provide a new candidate STR locus for paternity identification. Methods Chelex method was used to extract healthy unrelated individual DNAs from Han nationality in Jiamusi area, and 10 individuals from 3 families were extracted by QIAamp Blood Kitagen method to amplify and amplify DNA, and ABIPRISMTM3730XL DNA sequencer was sequenced by gel electrophoresis typing. The restriction endonuclease digested the genomic DNA of children by PCR amplification to determine the parental origin of the alleles. The results showed that there were 7 STR alleles of KCNQ1 gene in Chinese Han population in Jiamusi area, and the polymorphic information content was 0.662, and the STR locus of KCNQ1 gene was paternal imprinted. Conclusion the STR locus of imprinted gene KCNQ1 has a good polymorphism, which may provide a new candidate genetic marker for paternity identification, and its parent specific methylation marker is expected to be used in single parent identification.
【作者单位】：佳木斯大学基础医学院;
【分类号】：D919.4

【共引文献】