广东汉族人群D18S51基因座等位基因分型现象分析

目的分析广东汉族人群D18S51基因座等位基因的特殊分型现象。方法采用Chelex-100法提取DNA,采用Powerplex■21体系对广东汉族9 419例研究对象进行PCR复合扩增,采用毛细管电泳分析STR基因座的等位基因分型,采用Identifiler^TM体系验证其特殊分型。结果发现D18S51基因座存在三带型等位基因和off-ladder(OL)等位基因2种特殊分型,基因型频率分别为0.010 6%和0.021 2%。OL等位基因命名为28,由母亲遗传给孩子。不同检测体系证实了特殊分型发生的真实性。结论对于STR基因座的特殊分型,应采用不同试剂盒验证,正确命名OL等位基因及计算三带型等位基因的亲权指数。

Analysis of allelic typing of D18S51 locus in Guangdong Han population

Objective To analyze the peculiar typing phenomenon of alleles at the D18 S51 locus in the Han population in Guangdong.Methods Chelex-100 method was used to extract DNA,Powerplex■ 21 system was used to perform PCR multiplex amplification on 9 419 subjects of Han nationality in Guangdong,the allele typing of STR locus was analyzed by capillary electrophoresis,and Identifiler^TM system was used to verify its special classification.Results It was found that there were two special types of three-band alleles and off-ladder(OL)alleles in the D18 S51 locus.The genotype frequencies were 0.010 6%and 0.0212%,respectively.The OL allele was named 28 and was passed from mother to child.Different detection systems had confirmed the authenticity of the occurrence of special typing.Conclusion For the special typing of STR loci,different kits should be used to verify,correctly name the OL alleles and calculate the parental index of the three-band alleles.