葡萄糖激酶W257R突变致青少年发病的成人型糖尿病一家系分析  

A novel mutation W257R in GCK gene discovered from a Chinese patient with maturity onset diabetes of the young

作　　者：洪萍萍 郭冰洁 林莉[1] 林细华[1] 周嘉强[1] HONG Pingping;GUO Bingjie;LIN Li;LIN Xihua;ZHOU Jiaqiang(Department of Endocrinology,Sir Run Run Shaw Hospital,Zhejiang University School of Medicine,Hangzhou 310016,China)

机构地区：[1]浙江大学医学院附属邵逸夫医院内分泌科

出　　处：《浙江大学学报（医学版）》2019年第2期200-203,共4页Journal of Zhejiang University(Medical Sciences)

摘　　要：青少年发病的成人型糖尿病(MODY)是一类以常染色体显性模式遗传的单基因疾病,临床表现以无症状、轻度空腹血糖升高为特征,很少出现糖尿病并发症。本文报道一例中国人群中葡萄糖激酶(GCK)基因新发W257R突变所致的MODY。在先证者及父亲、弟弟中均发现GCK基因(Chr744187343)第7号外显子的杂合突变c.769T>C(p.W257R)。该家系中W257R突变在中国人群中为首发。Maturity onset diabetes of the young(MODY) is a monogenic autosomal dominant inherited disease. Its clinical manifestations are asymptomatic with slightly elevated fasting blood glucose and few complications. This paper reports a novel mutation W257 R in glucokinase(GCK) gene from a Chinese patient with MODY. Heterozygous mutation c.769 T>C(p.W257 R) in exon 7 of GCK gene(Chr744187343) was found in the proband, her father and brother. This W257 R mutation was first reported in Chinese population.

关 键 词：基因 显性 染色体 人 突变 葡糖激酶/遗传学 糖尿病 2型/遗传学 系谱 中国 病例报告 

分 类 号：Q344[生物学—遗传学] R587.1[医药卫生—内分泌]