常染色体STR基因座三等位基因在法医DNA鉴定及临床实践中的意义

The significance of Tri-allele on autosomal STR loci in forensic DNA testing and clinical practice

常染色体STR分型偶尔可检测出三等位基因。已有大量文献报道三等位基因,且被基因库收录。三等位基因的出现不但会对法医DNA案件分析结果产生一定的影响,而且利用三等位基因的特殊表现模式,对某些特定疾病的诊断与筛查也具有重要的价值。本文对常染色体STR三等位基因的形成机制和峰型表现模式、产生三等位基因的基因座、三等位基因对法医DNA鉴定产生的影响、在临床疾病的辅助诊断实践中的应用价值及三等位基因的未来应用展望做一综述。

Autosomal STR genotype may occasionally detect the tri-allele. A large number of tri-allele have been reported in the literature and included in the gene bank. The appearance of the tri-allele will not only affect the results of the forensic DNA analysis,but it is also valuable to diagnose and screen certain diseases using the special expression pattern of the tri-allele. This article reviewed the formation mechanism and peak presentation patterns of tri-allele; the locus with tri-allele; the impact of tri-allele on forensic DNA identification and its application value in clinical assistant diagnostic practice and the prospects for future applications of tri-allele.