79例2型青少年发病的成年型糖尿病患者的GCK基因分析：一项土耳其多中心研究、突变谱及20种新突变的描述
Analysis of the GCK gene in 79 MODY type 2 patients: A multicenter Turkish study, mutation profile and description of twenty novel mutations.
作者信息
Aykut Ayça, Karaca Emin, Onay Hüseyin, Gökşen Damla, Çetinkalp Şevki, Eren Erdal, Ersoy Betül, Çakır Esra Papatya, Büyükinan Muammer, Kara Cengiz, Anık Ahmet, Kırel Birgül, Özen Samim, Atik Tahir, Darcan Şükran, Özkınay Ferda
机构信息
Department of Medical Genetics, School of Medicine, Ege University, Izmir, Turkey.
Department of Medical Genetics, School of Medicine, Ege University, Izmir, Turkey.
出版信息
Gene. 2018 Jan 30;641:186-189. doi: 10.1016/j.gene.2017.10.057. Epub 2017 Oct 19.
Maturity onset diabetes is a genetic form of diabetes mellitus characterized by an early age at onset and several etiologic genes for this form of diabetes have been identified in many patients. Maturity onset diabetes type 2 [MODY2 (#125851)] caused by mutations in the glucokinase gene (GCK). Although its prevalence is not clear, it is estimated that 1%-2% of patients with diabetes have the monogenic form. The aim of this study was to evaluate the molecular spectrum of GCK gene mutations in 177 Turkish MODY type 2 patients. Mutations in the GCK gene were identified in 79 out of 177. All mutant alleles were identified, including 45 different GCK mutations, 20 of which were novel.
成年发病型糖尿病是糖尿病的一种遗传形式，其特征为发病年龄较早，并且在许多患者中已鉴定出这种糖尿病形式的多个病因基因。2型成年发病型糖尿病[MODY2（#125851）]由葡萄糖激酶基因（GCK）突变引起。尽管其患病率尚不清楚，但据估计1%-2%的糖尿病患者患有单基因形式。本研究的目的是评估177例土耳其2型MODY患者中GCK基因突变的分子谱。177例患者中有79例鉴定出GCK基因突变。所有突变等位基因均被鉴定出来，包括45种不同的GCK突变，其中20种是新发现的。
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