Haneda M, Chan S J, Kwok S C, Rubenstein A H, Steiner D F
Proc Natl Acad Sci U S A. 1983 Oct;80(20):6366-70. doi: 10.1073/pnas.80.20.6366.
Both alleles of the insulin gene of a patient with mild diabetes [maturity-onset-diabetes-of-the-young (MODY)-type syndrome] associated with hyperinsulinemia have been cloned, and the sequences have been determined. One allele contained a mutation (single nucleotide transition) in the coding sequence for the B chain at position 24 (TTC leads to TCC), resulting in the loss of a restriction enzyme (Mbo II) cleavage site in the gene. This mutation results in the substitution of serine for phenylalanine in a critically important region of the insulin molecule that is intimately involved in receptor binding. Both insulin alleles were of the alpha type and, aside from a single nucleotide deletion in the 5' region of the normal allele, their sequences were identical to those previously determined.
一位患有轻度糖尿病[青年发病型成年糖尿病（MODY）综合征]且伴有高胰岛素血症患者的胰岛素基因的两个等位基因已被克隆，并测定了其序列。其中一个等位基因在B链编码序列的第24位发生了突变（单核苷酸转换，TTC变为TCC），导致该基因中一种限制性内切酶（Mbo II）切割位点的丢失。这种突变导致胰岛素分子中一个与受体结合密切相关的关键区域内苯丙氨酸被丝氨酸取代。两个胰岛素等位基因均为α型，除了正常等位基因5'区域有一个单核苷酸缺失外，它们的序列与先前测定的序列相同。
