广东汉族人群Penta D基因座off-ladder稀有等位基因分析  

Analysis of off-ladder rare allele in Penta D locus in Guangdong Han population

作　　者：兰菲菲[1] 周伟宁[1] 陈延冰 丁红珂[1] Lan Feifei;Zhou Weining;Chen Yanbing;Ding Hongke(Guangdong Women and Children Hospital,Guangzhou 511440,China)

机构地区：[1]广东省妇幼保健院医学遗传中心,广东广州511442

出　　处：《中国产前诊断杂志（电子版）》2020年第1期24-27,共4页Chinese Journal of Prenatal Diagnosis(Electronic Version)

摘　　要：目的分析广东汉族人群亲子鉴定中Penta D基因座出现在等位基因分型标准物(allelic ladder)之外(off-ladder,OL)的现象并计算/命名基因分型。方法采用Chelex-100法提取样本DNA,用PowerPlex■21体系进行PCR扩增后,毛细管电泳分析STR基因座的等位基因分型。结果双亲三联体鉴定的父亲和孩子在Penta D基因座检测出OL等位基因,经过计算得出该OL等位基因的基因分型为21,不在Penta D基因座Allelic Ladder范围之内,是新的稀有等位基因。结论Penta D基因座的OL稀有等位基因21在广东汉族人群中有分布,稀有等位基因的鉴定及分型计算/命名对于提高该基因座在亲权鉴定和个体识别中的能力具有重要科学意义。Objective To analysis the outside allelic ladder(OL)phenomenon of Penta D locus and calculate/name its genotyping in paternity testing of Guangdong Han population.Methods Sample DNA was extracted using Chelex-100 method,genotype of STR loci were determined and analyzed by PowerPlex○R21 multiplex fluorescent PCR amplification and capillary electrophoresis.Results Father and child were detected OL allele in the Penta D locus in a two-parent triad.After calculation,the genotype of the OL allele was 21,which was not in the range of Allelic Ladder of Penta D locus as a new rare allele.Conclusion The OL rare allele 21 of Penta D locus was distributed in Guangdong Han population.The identification and typing calculation/nomenclature of rare alleles have important scientific significance for improving the ability of this locus in paternity testing and individual identification.

关 键 词：亲子鉴定 Penta D基因座 off-ladder等位基因 

分 类 号：D91[政治法律—法学]