Berliner N, Duby A D, Morton C C, Leder P, Seidman J G
J Clin Invest. 1985 Sep;76(3):1283-5. doi: 10.1172/JCI112086.
Abnormal T cell function is a feature of a spectrum of inherited and acquired diseases. We have detected a frequent restriction fragment length polymorphism in the human T cell antigen receptor beta-chain locus that may aid in the analysis of these disorders. A study of a panel of 18 normal individuals, testing for the presence of the polymorphism, showed it to account for 36% of the alleles in that group. In view of the fact that the T cell receptor beta-chain locus has been mapped to chromosome 7, and that the disease ataxia telangiectasia (AT) is associated both with abnormal T cell function and with chromosomal abnormalities of the same region of chromosome 7, we investigated the possibility that the polymorphism could demonstrate linkage of the T cell receptor locus to the gene for that disease. We demonstrated that the mutation causing AT did not lie within the beta-chain locus itself, and that there was preliminary evidence that the two loci were not closely linked. This polymorphism may provide a useful tool for the study of other genetic disorders associated with abnormalities of T cell function, as well as disorders associated with inherited or acquired abnormalities of chromosome 7.
异常的T细胞功能是一系列遗传性和后天性疾病的特征。我们在人类T细胞抗原受体β链基因座中检测到一种常见的限制性片段长度多态性，这可能有助于对这些疾病进行分析。对一组18名正常个体进行的多态性检测研究表明，该多态性在该组等位基因中占36%。鉴于T细胞受体β链基因座已被定位到7号染色体，且共济失调毛细血管扩张症（AT）既与异常的T细胞功能有关，又与7号染色体同一区域的染色体异常有关，我们研究了这种多态性是否能证明T细胞受体基因座与该疾病基因存在连锁关系。我们证明导致AT的突变并不位于β链基因座本身，并且有初步证据表明这两个基因座没有紧密连锁。这种多态性可能为研究与T细胞功能异常相关的其他遗传疾病以及与7号染色体遗传性或后天性异常相关的疾病提供有用的工具。
