Evaluation of tetrameric microsatellites for use in personal identification of Japanese

多态微卫星(短串联重复序列：STR)是在人类识别中非常有用的遗传标记。我们以前报道过两个四聚体短串联重复序列vWF-p和TH01的DNA分型，为日本人的个人身份识别提供了准确和快速的鉴别。本研究对两个STR基因座vWF-k(TCTA)n和AR(CAG)n(CAA)进行了评估。(1)对460名无血缘关系的日本人进行了vWF-k基因分型。观察到了良好的等位基因。杂合度为0.798，多态信息含量为0.765。(2)研究了vWF-k和vWF-p基因座的单倍型分析在法医学调查中的应用，因为单倍型比同种异型产生更多的变异。这两个四聚体重复基因座位于von Willebrand因子基因内含子40的约700bp内。对57个家系的DNA进行聚合酶链式反应分析，并根据家系数据构建单倍型。在包括在这些家庭中的116个无关个体中，鉴定出多达29个单倍型。杂合度和多态信息含量分别为0.984和0.928。在116例个体中，用简单组合vWF-p基因分型方法可区分出72例。另一方面，通过单倍型分析确定了77个二倍型。这表明，测试在个人歧视中是有用的，特别是在有家庭信息的情况下。此外，这种单倍型分析在法医案例研究中被证明是一个强大的工具。(3)110名无关日本人的AR基因座的分型工作正在进行中。

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.