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Research Article Open access CC BY 4.0

Glucokinase Gene Mutations in Subjects with Gestational Diabetes Mellitus from Gaza Strip

Taher Alaqad, Mazen Alzaharna, Mohammed Ashour, Fadel Sharif

Journal of Pharmaceutical Research International · pp. 104–116 · Published 14 Dec 2021

10.9734/jpri/2021/v33i57A33974

Abstract

Objective: This study was conducted in order to evaluate the frequency of GCK gene mutations in exons 7, 8 & 9 in women with Gestational Diabetes Mellitus (GDM) and their relationship to some biochemical parameters as compared to healthy controls. Methods: Samples were collected from 45 GDM women and 42 apparently healthy pregnant women. DNA was extracted and the samples were screened for GCK exons 7, 8 & 9 mutations at positions C.682A>G (p.Thr228Ala); C.895G>C (p.Gly299Arg) and C.1148C>A (p.Ser383X), respectively. The mutations were genotyped using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) methodology. Investigated biochemical features included: fasting blood glucose (FBG), oral glucose tolerance test (OGTT), HbA1c, insulin and the lipid profile. Results: The results showed that 9 out of the 45 (i.e., 20%) GDM subjects harbored the exon 8 (895G>C) mutation. Neither exon 7 (c.682A>G) nor exon 9 (c.1148C>A) was encountered in the study population. Moreover, the level of FBG, OGTT and HBA1c were higher in the c.895G>C mutation-positive subjects, as compared to mutation-negative ones. Conclusions: The screening of GDM patients for GCK gene mutations allowed for the identification of glucokinase-deficient patients diagnosed as GDM. Therefore, molecular screening is important for the differential diagnosis of GDM and MODY2 and consequently, proper patient management.

GDM Glucokinase GCK Mutations MODY2 Gaza Strip- Palestine

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