青少年起病的成人型糖尿病相关基因新突变位点的发现

Detection of novel mutations related to maturity-onset diabetes of the young

目的发现新的青少年起病的成人型糖尿病(MODY)相关基因或已知的相关基因的新突变位点,为临床上MODY的诊断提供依据。方法以已知的MODY临床特征为筛选标准,从北京协和医院内分泌科就诊的患者中选取4例,提取其基因组DNA并进行全外显子组测序,用PCR及Sanger测序法对测序结果进行验证。结果在2例患者中分别发现了MODY相关基因GCK和HNF4α的新的突变位点c.1348G>T(p.Ala450Thr)和c.758G>A(p.Arg253Gln)。结论 2例患者均为MODY患者,所发现的MODY相关基因中的突变位点均为首次发现。

Objective To find novel genes related to maturity-onset diabetes of the young(MODY)or novel mutations of known MODY related genes and provide the basis for MODY diagnosis.Methods Taking the major clinical features of MODY as screening criteria,we selected four patients from the Endocrine Department of Peking Union Medical College Hospital and prepared their genomic DNA sample for whole exome sequencing.PCR and Sanger sequencing are used to validate the sequencing results.Results Two novel mutations of the GCK gene and HNF4αgene,c.1348G>T(p.Ala450Thr)and c.758G>A(p.Arg253Gln)were found in two patients.Conclusions These two patients are both MODY patients and this is the first time the novel mutations were found.