Bhatia E, Jackson R A
Joslin Diabetes Center, Department of Medicine, Brigham & Women's Hospital, Harvard Medical School, Massachusetts.
Indian J Med Res. 1993 Jun;98:107-13.
The T-cell antigen receptor gamma chain, in conjunction with the delta chain, forms a functional receptor on a small percentage of circulating T-cells. Using restriction enzymes Msp 1 and Stu 1, and a human gamma chain cDNA probe, pT gamma 1, frequent restriction fragment length polymorphisms (RFLPs; 8 kb Msp 1 band; 7.6, 5.0, and 4.3/4.0 kb Stu 1 bands) were detected using DNA from healthy controls. These RFLPs allowed determination of parental alleles at the gamma chain locus, and follow up of their inheritance within families. Since Type 1 diabetes is an organ-specific autoimmune disease thought to be mediated by T-cells, the association of gamma chain polymorphisms with Type 1 diabetes was studied in a population study. No significant association was found with any of the polymorphic bands. The segregation of the gamma chain alleles among diabetic sibs in 6 multiplex families with Type 1 diabetes was also studied but linkage with diabetes could not be demonstrated.
T细胞抗原受体γ链与δ链结合，在一小部分循环T细胞上形成功能性受体。使用限制性内切酶Msp 1和Stu 1以及人γ链cDNA探针pTγ1，利用健康对照的DNA检测到频繁的限制性片段长度多态性（RFLP；8 kb Msp 1条带；7.6、5.0和4.3/4.0 kb Stu 1条带）。这些RFLP可用于确定γ链基因座上的亲本等位基因，并追踪其在家族中的遗传情况。由于1型糖尿病是一种被认为由T细胞介导的器官特异性自身免疫性疾病，因此在一项人群研究中研究了γ链多态性与1型糖尿病的关联。未发现与任何多态性条带存在显著关联。还研究了6个患有1型糖尿病的多重家庭中糖尿病同胞间γ链等位基因的分离情况，但未证明与糖尿病存在连锁关系。
