Evaluation of tetrameric microsatellites for use in personal identification of Japanese

多态微卫星（short tandem repeat， STR）是一种非常有用的遗传标记。我们之前报道了基于pcr的两种四聚体STRs vWF-p和TH01的DNA分型为日本人的个人鉴定提供了准确、快速的区分。本研究对两个STR基因座vWF-k (TCTA) n和AR (CAG) n （CAA）进行了评价。(1)对460例无血缘关系的日语进行了vWF-k的分型。观察到良好的等位基因。杂合度为0.798，多态性信息含量（PIC）为0.765。(2)对vWF-k和vWF-p基因座的单倍型分析在法医调查中的有用性进行了检验，因为单倍型比同种异型产生更多的变异。这两个四聚体重复位点位于血管性血友病因子基因40内含子约700 bp内。对57个家系的DNA进行PCR检测，构建单倍型。在116个无亲缘关系的个体中鉴定出多达29个单倍型。杂合度和多态性信息含量分别为0.984和0.928。在116个个体中，利用vWF-p的简单组合基因分型区分出72个个体。另一方面，单倍型分析确定了77个双倍型。这表明测试在个人歧视方面是有用的，特别是在有家庭信息的情况下。此外，这种单倍型分析已被证明是法医案例研究的有力工具。(3)对110例无亲缘关系的日本人进行AR位点分型调查。

Polymorphic microsatellites (short tandem repeat : STR) are the genetic markers very useful in human identification. We previously reported that PCR-based DNA typing of two tetrameric STRs vWF-p and TH01 provided an accurate and rapid discrimination for personal identification of Japanese. In this study, two STR loci vWF-k (TCTA) n and AR (CAG) n (CAA) were evaluated.(1) Typing for vWF-k of 460 unrelated Japanese was done. Nice alleles were observed. The heterozygosity was 0.798 and the polymorphism information content (PIC) was 0.765.(2) The usefulness of a haplotype analysis of vWF-k and vWF-p loci in forensic investigations was examined, since a haplotype produces more variation than an allotype. These two tetrameric repeat loci are located within approximately 700 bp of intron 40 of the von Willebrand factor gene. Their polymorphisms were determined by PCR for DNA obtained from a total of 57 families and haplotypes were constructed on the basis of the family data. As many as 29 haplotypes were identified of 116 unrelated individuals included in the families. Its heterozygosity and polymorphism information content were 0.984 and 0.928, respectively. Among the 116 individuals, 72 were distinguished using the simply combined genotyping of vWF-p. On the other hand, 77 diplotypes were determined with the haplotype analysis. This suggests usefulness of the testing in personal discrimination, especially in cases haveing the family information. Moreover, this haplotype analysis has proved to be a powerful tool in forensic case studies.(3) Typing for AR locus of 110 unrelated Japanese is under investigation.