一个葡萄糖激酶基因Gly162Asp错义突变致青少年发病的成年型糖尿病2型家系报告

发布时间：2018-02-10 20:09

  本文关键词： 青少年发病的成年型糖尿病 葡萄糖激酶基因 错义突变　出处：《中国糖尿病杂志》2017年08期 　论文类型：期刊论文

【摘要】：目的对一个高度怀疑青少年发病的成年型糖尿病2型(MODY2),即葡萄糖激酶(GCK)基因突变所致MODY家系寻找基因突变位点,并探讨其临床特点。方法对1例意外发现血糖升高、无酮症倾向、有糖尿病家族史的10岁女孩采用芯片捕获高通量测序方法进行致病基因检测,发现其携带GCK基因突变,对其家系进行调查,收集家系成员相关临床资料并取得家系成员的外周血基因组DNA,使用Sanger测序技术对家系成员进行筛查。结果该家系的5名成员检测到GCK基因(NM_000162)第5号外显子c.485GA(p.Gly162Asp)杂合错义突变,其中有4例为糖尿病患者,1例为IGR,该突变与糖尿病和IGR共分离,在白种人群中已有报道,在中国人群中为首次发现。结论 GCK基因突变c.485GA是该MODY2家系的主要致病基因。
[Abstract]:Objective to search for the gene mutation site in a MODY pedigree caused by the mutation of GCK gene in a highly suspected adolescent type 2 diabetes mellitus type 2 diabetes mellitus (MODY2) gene mutation and to explore its clinical characteristics. Methods A case of hyperglycemia was found in one case. A 10-year-old girl with a family history of diabetes, who had no ketosis tendency, used a microarray capture high-throughput sequencing method to detect the pathogenicity genes, and found that she was carrying a mutation in the GCK gene, and investigated her pedigree. The clinical data of the family members were collected and the peripheral blood genomic DNAs of the family members were obtained. The Sanger sequencing technique was used to screen the family members. Results the heterozygous missense mutation of the GCK gene was detected in 5 members of the family (exon 5, c. 485 GAP. Gly162 Asp.). The mutation was isolated from diabetes mellitus and IGR. It was reported in white population and was first found in Chinese population. Conclusion GCK gene mutation c.485GA is the main pathogenic gene in this MODY2 pedigree.
【作者单位】： 贵州医科大学附属医院内分泌代谢科;
【基金】：贵州省科技合作计划项目(黔科合LH字[2015]7413号)
【分类号】：R725.8
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本文编号：1501333