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本文应用聚合酶链反应(PGR)扩增了1例糖尿病伴有高胰岛素血症患者以及正常对照的胰岛素基因片段,随后用合成的顺序特异性寡核苷酸探针对上述患者及正常对照的胰岛素基因片段进行点杂交(dot-blot)分析。结果发现该患者是1例胰岛素基因B链25位突变患者(芝加哥胰岛素型),基因突变为B_(25)(TTC-TTG),蛋白质水平为亮氨酸在B_(25)位上替代苯丙氨酸,从而在中国糖尿病患者中首次发现了此类突变病例。
In this study, polymerase chain reaction (PGR) was used to amplify the insulin gene fragment of one patient with diabetes mellitus and hyperinsulinemia, as well as the normal controls. The synthesized sequence-specific oligonucleotide probes Insulin gene fragments were subjected to dot-blot analysis. The patient was found to be one case of 25 mutations in the B chain of the insulin gene (Chicago Insulin Type) with a gene mutation of B 25 TTC-TTG and leucine at B 25 instead of phenylpropanoid Aspartic acid, which for the first time in China, patients with diabetes found such mutations.