Watanabe G, Umetsu K, Yuasa I, Suzuki T
Department of Forensic Medicine, Yamagata University School of Medicine, Japan.
J Forensic Sci. 1998 Jul;43(4):733-7.
In the course of the investigation of a pentanucleotide repeat polymorphism at the human CD4 locus, a C-A transversion was found at the position corresponding to the 3' end of the original forward primer presented by Edwards et al. (1). In the present study, the simultaneous determination of the new sequence polymorphism and the pentanucleotide repeat polymorphism at the CD4 locus was attempted. To achieve this purpose, we adopted amplified product length polymorphism (APLP) analysis and designed some new allele-specific forward primers tagged with non-complementary nucleotides differing in length. A total of 646 DNA samples from peripheral blood of Japanese, Chinese and German populations were investigated. Although the C-A transversion was restricted to CD45, a new subtype allele with A and 5 repeats, designated CD45A, was observed at polymorphic frequencies in the three populations. The simultaneous genotyping by APLP analysis resulted in dramatically increased heterozygosity and discriminating power of the human CD4 locus.
在对人类 CD4 基因座五核苷酸重复多态性的研究过程中，在与 Edwards 等人（1）提出的原始正向引物 3' 端相对应的位置发现了一个 C 到 A 的颠换。在本研究中，尝试同时测定 CD4 基因座的新序列多态性和五核苷酸重复多态性。为实现这一目的，我们采用了扩增产物长度多态性（APLP）分析，并设计了一些新的等位基因特异性正向引物，这些引物带有长度不同的非互补核苷酸标签。对来自日本、中国和德国人群外周血的总共 646 个 DNA 样本进行了研究。尽管 C 到 A 的颠换仅限于 CD45，但在这三个群体中以多态频率观察到了一种新的亚型等位基因，其具有 A 和 5 个重复，命名为 CD45A。通过 APLP 分析进行的同时基因分型导致人类 CD4 基因座的杂合度和鉴别能力显著提高。
