Robinson M A, Kindt T J
Proc Natl Acad Sci U S A. 1985 Jun;82(11):3804-8. doi: 10.1073/pnas.82.11.3804.
Polymorphism in the genes encoding the constant (C) region of the beta chain of the T-cell antigen receptor (CT beta, also called C beta) has been detected by molecular genotyping analyses. In initial screenings, a panel of restriction endonucleases was used to digest DNA samples from two individuals; the digested samples were subjected to Southern blot analyses using a CT beta probe. The enzyme Bgl II revealed restriction-fragment-length polymorphism in these samples and was subsequently used to test 59 individual members of eight different families. Polymorphic fragments detected in six of the families could be used to follow the segregation of T-cell receptor genes; in many cases maternal and/or paternal haplotypes could be assigned. All members of two additional families displayed a single CT beta hybridizing fragment. In one family the DNA sample from one of the children lacked an expected Bgl II restriction fragment. On the basis of analyses with other restriction enzymes, the most likely explanation is that the lymphoblastoid B-cell line used as a source of genomic DNA for this individual had rearranged or altered CT beta genes. Restriction-fragment-length polymorphisms used to discriminate CT beta haplotypes in families provide useful markers that will facilitate linkage studies and genetic analyses of T-cell function.
通过分子基因分型分析，已检测到编码T细胞抗原受体β链恒定（C）区的基因（CTβ，也称为Cβ）中的多态性。在初步筛选中，使用一组限制性内切酶消化来自两个个体的DNA样本；将消化后的样本用CTβ探针进行Southern印迹分析。酶Bgl II在这些样本中显示出限制性片段长度多态性，随后用于检测八个不同家族的59个个体成员。在六个家族中检测到的多态性片段可用于追踪T细胞受体基因的分离；在许多情况下，可以确定母本和/或父本单倍型。另外两个家族的所有成员都显示出一个单一的CTβ杂交片段。在一个家族中，一个孩子的DNA样本缺少预期的Bgl II限制性片段。基于用其他限制性酶的分析，最可能的解释是用作该个体基因组DNA来源的淋巴母细胞B细胞系已经重排或改变了CTβ基因。用于区分家族中CTβ单倍型的限制性片段长度多态性提供了有用的标记，这将有助于T细胞功能的连锁研究和遗传分析。
