葡萄糖激酶
青少年成熟型糖尿病
糖尿病
外显子
内科学
医学
内分泌学
基因
突变
2型糖尿病
基因突变
2型糖尿病
遗传学
生物
作者
Raida Khalil,Fawzu Al-Sheyab,Emran Khamaiseh,Marwan Abu Halaweh,Hasan A. Abder-Rahman
摘要
Maturity-onset diabetes of the young type 2 (MOdY2) is a genetic form of diabetes mellitus caused by mutations in the glucokinase gene (GCK).We assessed the frequency of GCK gene mutations in Jordanian suspected MOdY2 patients.We screened exons 7, 8 and 9, which are specific for pancreatic glucokinase, for mutations at positions 682A>G, p.T228A; 895G>C, p.G299R, and 1148C>A, p.S383X, respectively, in 250 subjects (100 patients suspected to have MOdY2 and 150 healthy controls without family history of diabetes mellitus).We did not find any association of these mutations in Jordanian suspected MOdY2 patients or in healthy controls, different from data on Caucasian Italian patients screened for the same mutations.
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