| 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 |
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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. DOI: 10.3785/j.issn.1008-9292.2019.04.12 |
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| 作者姓名： | 洪萍萍 郭冰洁 林莉 林细华 周嘉强 |
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| 作者单位： | 浙江大学医学院附属邵逸夫医院内分泌科, 浙江 杭州 310016 |
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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。
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| 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 |
| 收稿时间： | 2018-11-30 |
A novel mutation W257R in GCK gene discovered from a Chinese patient with maturity onset diabetes of the young |
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| 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]. Journal of Zhejiang University. Medical sciences, 2019, 48(2): 200-203. DOI: 10.3785/j.issn.1008-9292.2019.04.12 |
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| Authors: | HONG Pingping GUO Bingjie LIN Li LIN Xihua ZHOU Jiaqiang |
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| Affiliation: | 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. |
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| Keywords: | Genes dominant Chromosomes human Mutation Glucokinase/genetics Diabetes mellitus type 2/genetics Pedigree China Case reports |
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