本文關(guān)鍵詞： 青少年發(fā)病的成年型糖尿病 葡萄糖激酶基因 錯(cuò)義突變　出處：《中國(guó)糖尿病雜志》2017年08期 　論文類(lèi)型：期刊論文

【摘要】：目的對(duì)一個(gè)高度懷疑青少年發(fā)病的成年型糖尿病2型(MODY2),即葡萄糖激酶(GCK)基因突變所致MODY家系尋找基因突變位點(diǎn),并探討其臨床特點(diǎn)。方法對(duì)1例意外發(fā)現(xiàn)血糖升高、無(wú)酮癥傾向、有糖尿病家族史的10歲女孩采用芯片捕獲高通量測(cè)序方法進(jìn)行致病基因檢測(cè),發(fā)現(xiàn)其攜帶GCK基因突變,對(duì)其家系進(jìn)行調(diào)查,收集家系成員相關(guān)臨床資料并取得家系成員的外周血基因組DNA,使用Sanger測(cè)序技術(shù)對(duì)家系成員進(jìn)行篩查。結(jié)果該家系的5名成員檢測(cè)到GCK基因(NM_000162)第5號(hào)外顯子c.485GA(p.Gly162Asp)雜合錯(cuò)義突變,其中有4例為糖尿病患者,1例為IGR,該突變與糖尿病和IGR共分離,在白種人群中已有報(bào)道,在中國(guó)人群中為首次發(fā)現(xiàn)。結(jié)論 GCK基因突變c.485GA是該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.
【作者單位】： 貴州醫(yī)科大學(xué)附屬醫(yī)院內(nèi)分泌代謝科;
【基金】：貴州省科技合作計(jì)劃項(xiàng)目(黔科合LH字[2015]7413號(hào))
【分類(lèi)號(hào)】：R725.8
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本文編號(hào)：1501333