叉头框蛋白A2基因c.428A>G杂合突变导致年轻的成年发病型糖尿病一例报道

Maturity-onset diabetes of youth caused by heterozygous mutation of FOXA2 gene C. 428A>G:a case report

分析MODY遗传病因并探讨其基因密码。采集先证者及父母、姥姥外周血,提取DNA,构建文库后杂交捕获目标区域,单端二代测序,分析结果后采用一代测序验证。先证者及其母亲为叉头框蛋白A2(FOXA2)基因c. 428A>G(p. Tyr143Cys)杂合错义突变。FOXA2基因突变c. 428A>G是主要致病基因。

To investigate the genetic etiology in maturity-onset diabetes of youth(MODY). Peripheral blood was collected and DNA was extracted from the proband,her parents and grandmother. After the DNA library was constructed,the target region was captured by hybridization,and single-ended next-generation sequencing was performed. The analysis results were verified by first-generation sequencing technology. The proband and her mother had a heterozygous missense mutation in FOXA2 gene C. 428A>G(p. Tyr143Cys).FOXA2 gene mutation C. 428A>G is the main pathogenic gene mutation in this MODY family.