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浙江大学学报（医学版）
J Zhejiang Univ (Med Sci)  2019, Vol. 48 Issue (2): 200-203    DOI: 10.3785/j.issn.1008-9292.2019.04.12
    
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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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     
Received: 30 November 2018      Published: 24 July 2019
CLC:  Q344  
  R587.1  
Corresponding Authors: ZHOU Jiaqiang     E-mail: 525192665@qq.com;zjq8866@zju.edu.cn
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HONG Pingping
GUO Bingjie
LIN Li
LIN Xihua
ZHOU Jiaqiang
Cite this article:

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.

URL:

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


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

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 
Fig 1 The pedigree of patient with glucokinase (GCK) gene heterozygous mutation(c.769T>C; p.W257R)
Fig 2 Sequencing diagram of the heterozygote mutation in the exon 7 of the glucokinase (GCK) gene of this pedigree (c.769T>C; p.W257R)
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