亲权鉴定中TH01基因座丢失现象分析  

Analysis of allele dropout at THO1 locus in paternity testing

作　　者：赖力[1] 沈晓丽[1] 薛士杰 胡洁[1] 

机构地区：[1]福建省立医院司法鉴定所福建省心血管病重点实验室福建医科大学省立临床学院,福州350001 [2]福建省医学科学研究院

出　　处：《中华医学遗传学杂志》2013年第5期622-625,共4页Chinese Journal of Medical Genetics

摘　　要：目的对亲权鉴定中TH01基因座丢失现象进行分析，以确定基因型。方法应用两套短串联重复序列基因座分型系统对TH01基因座异常分型进行重复验证，并设计TH01单基因座引物进行基因分型，产物经克隆测序分析。结果在TH01基因座检出稀有等位基因5．2，该稀有基因型在PowerPlex21分型系统中无法检出，呈现基因座丢失现象，而在Identifiler分型系统中可以准确分型。结论基因变异可导致稀有等位基因的H{现以及基因座丢失现象的产生，严重影响鉴定结果的准确判断，实验室应具备多种检测手段对基因座丢失现象进行分析，以避免错判发生。Objective To analyze allele dropout at TH01 locus in paternity testing in order to determine the accurate genotype. Methods To use a two STR loci genotyping system to verify an abnormal genotype for the TH01 locus with PCR using specific primers, cloning and DNA sequencing. Results A rare allele at TH01 locus named 5.2, which was undetectable with PowerPlex 21 system, was detected with an Identifiler system. Conclusion Genetic variations may result in rare alleles and loci loss. To avoid misjudgment, laboratories shall have a variety of methods for detecting loci loss.

关 键 词：等位基因丢失 亲权鉴定 克隆测序 

分 类 号：R394[医药卫生—医学遗传学]