摘要本研究从1例儿童糖尿病患者入手，详细收集临床资料和追溯糖尿病家族史，临床诊断为青少年的成人起病型糖尿病。提取患者及其一级家属外周血白细胞基因组DNA，扩增目标基因并测序，发现先证者和其父的肝细胞核因子1α基因第4外显子发生核苷酸错义突变(c.779C>T)，明确其青少年的成人起病型糖尿病3型的诊断。在1年的随访过程中，先证者应用格列奈类药物治疗后血糖达标，其父调整方案为长效磺脲类促泌剂后血糖明显改善。

abstractsThe study was initiated from a child with diabetes. After we collected his clinical data and traced back his family history of diabetes, a clinical diagnosis of maturity-onset diabetes of the young(MODY)was made. To amplify and sequence the target gene, the genomic DNA was extracted from the anticoagulant blood samples of the patient and his first-degree relatives, revealing a missense mutation(c.779C>T)in exon 4 of hepatocyte nuclear factor-1α in the proband and his father. The above sequencing result confirms the diagnosis of MODY3. During one year follow-up, the proband achieved the strict control of blood glucose with the use of repaglinide and his father got a notable improvement of blood glucose after his drug was shifted to the long-acting sulfonylurea.