位于日本人群三个vWA短串联重复序列中心的vWA基因座的多态性。

Polymorphism of the vWA locus located in the center of the three vWA STRs in the Japanese population.

作者信息

Tsutsumi Hirofumi, Komuro Toshinobu, Mukoyama Rei, Nogami Hiroaki

机构信息

Department of Legal Medicine, Nihon University School of Dentistry, Tokyo 101-8310, Japan.

出版信息

Leg Med (Tokyo). 2008 Jan;10(1):31-4. doi: 10.1016/j.legalmed.2007.05.008. Epub 2007 Aug 14.

DOI:10.1016/j.legalmed.2007.05.008

PMID:17698394

Abstract

The structural polymorphism of the vWA locus (vWA-T) located between the two polymorphic vWA loci (vWA-K and -P) was analyzed in 100 Japanese individuals using DNA samples isolated from dental pulp. The polymorphism of this locus was based on the difference in the number of tcta repeat. New interallele 11.1 was found in two samples. All together 9 alleles and 19 genotypes were observed. In addition, one mutant allele contained tcga in the common tcta repeat structure. The value of PD was calculated to be 0.900. Inheritance of the polymorphism was confirmed in a family including 23 individuals and 6 matings.

摘要

利用从牙髓中分离的DNA样本，对位于两个多态性vWA位点（vWA-K和-P）之间的vWA位点（vWA-T）的结构多态性进行了分析，共检测了100名日本个体。该位点的多态性基于tcta重复序列数量的差异。在两个样本中发现了新的等位基因11.1。总共观察到9个等位基因和19种基因型。此外，在常见的tcta重复结构中，一个突变等位基因包含tcga。计算得到的PD值为0.900。在一个包含23名个体和6次交配的家系中证实了该多态性的遗传情况。