D19S433稀有等位基因8.2的分子生物学确认与分析

Molecular biology confirmation and analysis of rare allele 8.2 of D19S433

目的对D19S433基因座稀有等位基因8.2,用分子生物学方法,验证其命名,对突变发生的位置进行确认和分析。方法设计引物对目的基因进行扩增和测序,验证常规命名法。将测序所得序列与D19S433基因座的基础序列进行比对分析。结果Goldeneye DNA 20A和AGCU EX22亲子鉴定系统联合检测,相互比对,确定在检案中发现的分型标准物之外(Off⁃ladder,OL)的等位基因为D19S433基因座的稀有等位基因。经常规漂移校正计算该等位基因为8.2。测序后分析其重复序列确定该等位基因为8.2无误。结论对STR分型中发现的稀有等位基因进行测序,分析其重复序列,可以准确的对其进行命名,确定稀有等位基因突变的位置,丰富中国人群STR数据信息。

Objective To validate the naming of the rare allele 8.2 at the D19S433 locus and confirm and analyze the location of the mutation using molecular biology methods.Methods Primers were designed to amplify the rare allele,then sequence it to confirm the conventional nomenclature.the sequenced allele with the reference sequence of locus D19S433 was aligned.Results After the detection of both the Goldeneye®DNA 20A and AGCU EX22 paternity systems,the off⁃ladder discovered in the paternity test was confirmed as a rare allele in the locus D19S433.The rare allele was named as 8.2 using conventional calculation methods,and the correction of the name was confirmed by sequence analysis.Conclusion Sequencing the rare alleles discovered in STR genotyping allows for accurate naming of the rare alleles by analyzing the repetitive sequence.This process also involves locating the mutation site of the rare allele.Rich Chinese STR data information is available for reference.