Robinson M A, Kindt T J
Immunogenetics. 1986;24(4):259-66. doi: 10.1007/BF00364530.
The gene complex encoding the beta chain of the T-cell antigen receptor (Tcr) in man was previously reported to contain a restriction fragment length polymorphism (RFLP) involving a single Bgl II site adjacent to the second constant region gene. This RFLP allowed assignment of Tcr beta genotypes in certain human families. In the present study, two different RFLP in a V beta gene family were detected using the murine probe V8.1 in genomic DNA samples digested with the restriction endonucleases Hind III and Bam HI. Use of these RFLP to mark the V beta gene complex allowed complete haplotype assignment in four of seven families studied and provided support for linkage of the V gene complex to the constant region genes. Different combinations of the C and two V region markers can result in eight possible distinct haplotypes. The observation of all but one of the eight possible haplotypes in parents of the families studied suggests that recombination events occur between the C and V region and among members of the V region subfamily marked by the V8.1 probe. These markers can be used for mapping studies of the V beta gene complex in man and will allow an appraisal of possible associations between Tcr beta genes and disease susceptibility.
先前报道，人类中编码T细胞抗原受体（Tcr）β链的基因复合体包含一种限制性片段长度多态性（RFLP），该多态性涉及与第二个恒定区基因相邻的单个Bgl II位点。这种RFLP使得能够在某些人类家族中确定Tcrβ基因型。在本研究中，使用鼠源探针V8.1在经限制性内切酶Hind III和Bam HI消化的基因组DNA样本中检测到Vβ基因家族中的两种不同RFLP。利用这些RFLP标记Vβ基因复合体，在研究的七个家族中的四个家族中实现了完整的单倍型分型，并为V基因复合体与恒定区基因的连锁提供了支持。C区和两个V区标记的不同组合可产生八种可能的不同单倍型。在所研究家族的父母中观察到了除一种之外的所有八种可能单倍型，这表明在C区和V区之间以及由V8.1探针标记的V区亚家族成员之间发生了重组事件。这些标记可用于人类Vβ基因复合体的定位研究，并将有助于评估Tcrβ基因与疾病易感性之间可能存在的关联。
