[Haplotype analysis using two tetrameric loci within the vWF gene: its frequency in Japanese and application in...

The potential usefulness of a haplotype analysis in forensic investigations was examined, as a haplotype produces more variation than an allotype. Two tetrameric repeat loci, vWF-k and vWF-p, were chosen as a haplotype probe, these being 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 0.948 and 0.921, respectively. Among the 116 individuals, 72 were distinguished using the simply combined genotyping of vWF-k and vWF-p. On the other hand, 77 diplotypes were determined with the haplotype analysis. This indicates the value of such testing in personal discrimination, especially in cases where there is family information. The present paper also describes case studies, which include a successful application of this haplotype analysis to the individual identification of a decomposed forensic sample.