人类T细胞受体α链编码基因的限制性片段长度多态性
Restriction fragment length polymorphism of the gene encoding the alpha chain of the human T cell receptor.
作者信息
Hoover M L, Marks J, Chipman J, Palmer E, Stastny P, Capra J D
出版信息
J Exp Med. 1985 Sep 1;162(3):1087-92. doi: 10.1084/jem.162.3.1087.
Abstract
Two allelic forms of the T cell antigen receptor alpha chain gene were discerned by restriction fragment length polymorphism (RFLP) employing the T cell antigen receptor alpha chain probe pGA5, and the restriction enzyme Bgl II. Analysis revealed that the polymorphic fragments are detected by a probe specific for the constant region exon of the T cell antigen receptor alpha chain gene. Furthermore, the polymorphic fragments were shown to segregate within families. The two allelic forms yield two homozygous states, 3.2/3.2 and 2.9/2.9, at a frequency of 76.5 and 2.9%, respectively, within the normal population. The heterozygous state was observed in 20.6% of the population. The discovery of allelic forms of both the alpha and beta chains of the T cell antigen receptor genes may provide a unique opportunity to study heritable markers of T cell function in several human diseases.
摘要
利用T细胞抗原受体α链探针pGA5和限制性内切酶Bgl II，通过限制性片段长度多态性（RFLP）识别出T细胞抗原受体α链基因的两种等位基因形式。分析表明，多态性片段可被T细胞抗原受体α链基因恒定区外显子特异性探针检测到。此外，多态性片段在家族中呈分离状态。在正常人群中，这两种等位基因形式分别产生两种纯合状态，即3.2/3.2和2.9/2.9，频率分别为76.5%和2.9%。在20.6%的人群中观察到杂合状态。T细胞抗原受体基因α链和β链等位基因形式的发现可能为研究几种人类疾病中T细胞功能的遗传标记提供独特的机会。
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