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浙江大学学报(医学版)  2019, Vol. 48 Issue (2): 200-203    DOI: 10.3785/j.issn.1008-9292.2019.04.12
病例报告     
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
洪萍萍(),郭冰洁,林莉,林细华,周嘉强*()
浙江大学医学院附属邵逸夫医院内分泌科, 浙江 杭州 310016
A novel mutation W257R in GCK gene discovered from a Chinese patient with maturity onset diabetes of the young
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
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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。

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    
Abstract:

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 W257R in glucokinase (GCK) gene from a Chinese patient with MODY. Heterozygous mutation c.769T>C (p.W257R) in exon 7 of GCK gene (Chr744187343) was found in the proband, her father and brother. This W257R mutation was first reported in Chinese population.

Key words: Genes, dominant    Chromosomes, human    Mutation    Glucokinase/genetics    Diabetes mellitus, type 2/genetics    Pedigree    China    Case reports
收稿日期: 2018-11-30 出版日期: 2019-07-24
CLC:  Q344  
通讯作者: 周嘉强     E-mail: 525192665@qq.com;zjq8866@zju.edu.cn
作者简介: 洪萍萍(1987-), 女, 硕士研究生, 主治医师, 主要从事内分泌科疾病研究; E-mail:525192665@qq.com; https://orcid.org/0000-0001-7504-0494
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引用本文:

洪萍萍,郭冰洁,林莉,林细华,周嘉强. 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[J]. 浙江大学学报(医学版), 2019, 48(2): 200-203.

HONG Pingping,GUO Bingjie,LIN Li,LIN Xihua,ZHOU Jiaqiang. A novel mutation W257R in GCK gene discovered from a Chinese patient with maturity onset diabetes of the young. J Zhejiang Univ (Med Sci), 2019, 48(2): 200-203.

链接本文:

http://www.zjujournals.com/med/CN/10.3785/j.issn.1008-9292.2019.04.12        http://www.zjujournals.com/med/CN/Y2019/V48/I2/200

图 1  一例葡萄糖激酶(GCK)基因杂合突变(c.769T>C;p.W257R)患者的家系图
图 2  该家系葡萄糖激酶(GCK)基因第7号外显子杂合突变(c.769T>C;p.W257R)的测序图
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