Analysis of the GCK gene in 79 MODY type 2 patients: A multicenter Turkish study, mutation profile and description of twenty novel mutations
Makaleler > Tam Makale · 2017
Yazarlar: Ayça AYKUT, Emin KARACA, HÜSEYİN ONAY, Ruhsar Damla GÖKŞEN, Şevki ÇETİNKALP, Erdal Eren, Betul Ersoy, Esra Papatya CAKIR, Muammer BUYUKINAN, Cengiz Kara, Ahmet Anik, Birgul Kirel, Samim ÖZEN, Tahir ATİK, Şükran DARCAN, Feriştah Ferda ÖZKINAY
Gene, SCI Expanded İndekslerine Giren Dergi, Uluslararası, Wos, 2017, cilt 641, ss 186-189
DOI: 10.1016/j.gene.2017.10.057
Özet
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.