Moghbeli Meysam, Naghibzadeh Bahram, Ghahraman Martha, Fatemi Sedigheh, Taghavi Morteza, Vakili Rahim, Abbaszadegan Mohammad Reza
1North Khorasan University of Medical Sciences, Bojnurd, Iran.
2Medical Genetics Research Center, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Indian J Clin Biochem. 2018 Jan;33(1):91-95. doi: 10.1007/s12291-017-0648-3. Epub 2017 Apr 13.
Mutations in hepatocyte nuclear factor-1 alpha (HNF1A) as a homeodomain transcription factor which regulates variety of genes, are the most common cause of maturity-onset diabetes of the young (MODY). Detection of HNF1A mutations not only classifies the subtype, but also predicts the likely clinical course and may alters the method of treatment from insulin to the oral sulphonylureas, which is shown to improve glycemic control. The coding and promoter regions of gene were screened for mutations in 34 unrelated Iranian MODY patients. We identified one novel missense mutation (C49G) and two novel polymorphisms and 8 recently identified SNPs in the gene. It is possible that in Iran, other yet to be identified genes are responsible for the familial young onset diabetes. Hence, there is a need for more extensive genetic analyses in Iranian patients with familial young onset diabetes.
肝细胞核因子1α（HNF1A）作为一种调控多种基因的同源结构域转录因子，其突变是青年发病型糖尿病（MODY）最常见的病因。检测HNF1A突变不仅可以对亚型进行分类，还能预测可能的临床病程，并且可能改变治疗方法，从胰岛素治疗改为口服磺脲类药物，这已被证明可改善血糖控制。我们对34名无亲缘关系的伊朗MODY患者的该基因编码区和启动子区域进行了突变筛查。我们在该基因中鉴定出一个新的错义突变（C49G）、两个新的多态性以及8个最近已鉴定出的单核苷酸多态性（SNP）。在伊朗，可能还有其他尚未被鉴定的基因导致家族性青年发病型糖尿病。因此，有必要对伊朗家族性青年发病型糖尿病患者进行更广泛的基因分析。
