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首页> 外文期刊>The journal of maternal-fetal & neonatal medicine >Identification of insulin gene variants in neonatal diabetes
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Identification of insulin gene variants in neonatal diabetes

机译：新生儿糖尿病胰岛素基因变种的鉴定

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Objectives: Permanent neonatal diabetes (PNDM) is caused by mutations in the genes responsible for the synthesis of different proteins that are important for the normal behavior of beta cells in the pancreas. Mutations in the insulin gene (INS) are considered as one of the causes of diabetes in neonates. This study aimed to investigate the genetic variations in the INS gene in a group of Egyptian infants diagnosed with PNDM.Methods: We screened exons 2 and 3 with intronic boundaries of the INS gene by direct gene sequencing in 30 PNDM patients and 20 healthy controls. A detailed clinical phenotyping of the patients was carried out to specify the diabetes features in those found to carry an INS variant.Results: We identified five variants (four SNPs and one synonymous variant), c(0).187+11T>C, c.-17-6T>A, c.*22A>C, c.*9C>T, and c.36G>A (p.A12A), with allelic frequencies of 96.7%, 80%, 75%, 5%, and 1.7%, respectively. All showed no statistically significance difference compared with the controls, with the exception of c.*22A>C.Conclusion: Genetic screening for the INS gene did not reveal an evident role in the diagnosis of PNDM.
机译：目的：永久新生儿糖尿病（PNDM）是由负责合成不同蛋白质的基因中的突变引起的，这对于胰腺中β细胞的正常行为很重要。胰岛素基因（INS）中的突变被认为是新生儿糖尿病的原因之一。本研究旨在调查诊断为PNDM的一组埃及婴儿中INS基因的遗传变异。方法：通过30 pndm患者和20例健康对照，通过直接基因测序，通过直接基因测序筛选出口2和3。进行了详细的患者临床表型，以指定发现携带INS变体的人中的糖尿病特征。结果：我们确定了五种变体（四个SNP和一个同义变种），C（0）.187 + 11t> c， C.-17-6T> A，C. * 22A> C，C. * 9C> T，和C.36G> A（P.A12A），等位基因频率为96.7％，80％，75％，5％分别为1.7％。除了C. * 22A> C.结论：C12A> C.结论：遗传筛选在诊断PNDM的诊断中没有揭示遗传筛选的统计学意义差异。

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