CAJ | 학술논문

目的：分析河南省1个青少年发病的成人型糖尿病2型（MODY2）家系的基因突变情况。方法对河南省1个 MODY2家系进行相关的临床报道和基因突变分析。结果先证者，男，15岁，体检发现血糖升高3个月，OGTT 确诊糖尿病，胰岛素释放试验及 C 肽释放试验提示峰值延迟，胰岛素抗体全阴性，无相关糖尿病并发症，其家系中共确诊4名糖尿病患者，并存在3代患病特点，基因测序发现其家系中共有4人 GCK 基因外显子上存在 c.1174G ＞ T 错义突变，明确该家系为1个典型 MODY2家系。结论在河南一 MODY2家系中发现 GCK 基因上的1个新突变 c.1174G ＞ T，该突变可能是该 MODY2家系的主要致病原因。
목적：분석하남성1개청소년발병적성인형당뇨병2형（MODY2）가계적기인돌변정황。방법대하남성1개 MODY2가계진행상관적림상보도화기인돌변분석。결과선증자，남，15세，체검발현혈당승고3개월，OGTT 학진당뇨병，이도소석방시험급 C 태석방시험제시봉치연지，이도소항체전음성，무상관당뇨병병발증，기가계중공학진4명당뇨병환자，병존재3대환병특점，기인측서발현기가계중공유4인 GCK 기인외현자상존재 c.1174G ＞ T 착의돌변，명학해가계위1개전형 MODY2가계。결론재하남일 MODY2가계중발현 GCK 기인상적1개신돌변 c.1174G ＞ T，해돌변가능시해 MODY2가계적주요치병원인。
Objective To analyze the gene mutation of a family with maturity - onset diabetes of the young in Henan Prov-ince. Methods The clinical gene mutation of a family with maturity - onset diabetes of the young in Henan Province were ana-lyzed. Results A 15 year - old boy was referred to Department of Endocrinology for hyperglycemia for 3 months. The tests of OGTT,Insulin and C - peptide release tests showed he suffered from diabetes,but the insulin antibodies were all negative and no diabetic complication was found. Four people in three generations were diagnosed as diabetes in his family. There was a mutation c. 1174 G > T in GCK gene. It verified the family was a typical MODY2 pedigree. Conclusion A novel c. 1174G > T mutation was found in GCK gene,which might be linked to this MODY2 pedigree in Henan Province.