Aparicio J M, Wakisaka A, Takada A, Matsuura N, Yoshiki T
Jinrui Idengaku Zasshi. 1989 Dec;34(4):269-77. doi: 10.1007/BF01929208.
Polymorphism in the genes encoding the alpha (alpha), beta (beta) and gamma (gamma) chains of the human T-cell receptors was analyzed both in population and family studies. Against twelve unrelated Japanese, several out of the 15 restriction endonucleases tested, revealed restriction fragment length polymorphism. The segregation of the polymorphic fragments were confirmed among 15 members of three families. In most of the cases paternal and/or maternal haplotypes could be assigned. By testing the polymorphic enzymes among the random healthy Japanese, the frequency of each polymorphic fragment was then determined. Although the polymorphism found in this study was similar to that reported in Caucasians, some differences were observed. Such differences are discussed. The restriction fragment length polymorphism in both population and family studies, derived from alpha, beta and gamma chains of the T-cell receptor found in this report, might be useful markers for genetic analysis of the T-cell function in relation to immunological disorders.
在群体和家系研究中分析了编码人类T细胞受体α（α）、β（β）和γ（γ）链的基因中的多态性。在针对12名无关的日本人进行的研究中，所测试的15种限制性内切酶中有几种显示出限制性片段长度多态性。在三个家庭的15名成员中证实了多态性片段的分离。在大多数情况下，可以确定父本和/或母本单倍型。通过在随机选择的健康日本人中测试多态性酶，随后确定了每个多态性片段的频率。尽管本研究中发现的多态性与白种人中报道的相似，但也观察到了一些差异。对这些差异进行了讨论。本报告中发现的源自T细胞受体α、β和γ链的群体和家系研究中的限制性片段长度多态性，可能是用于与免疫紊乱相关的T细胞功能遗传分析的有用标记。
