کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
2797955 1155672 2009 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Identification of eight new mutations in the GCK gene by DHPLC screening in a Spanish population
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی علوم غدد
پیش نمایش صفحه اول مقاله
Identification of eight new mutations in the GCK gene by DHPLC screening in a Spanish population
چکیده انگلیسی

Maturity onset diabetes of the young (MODY) is a genetically heterogeneous disorder characterized by autosomal dominant inheritance, altered function of pancreatic beta cells and early onset diabetes mellitus, usually before 25 years old. The prevalence of specific mutations of MODY genes differs considerably among different countries. In this study we analyzed 53 index cases from unrelated MODY families who are potential carriers of mutations in GCK gene. In addition, 122 relatives were also studied. We have identified eight new mutations in the GCK gene. One of them is a non-frameshift deletion involving Lysine 143. This amino acid is part of the conserved stretch of basic residues (KHKKL) which spans from residue 140 to 144. The non-frameshit deletion might implicate the affinity of GCK for GCKRP, and potentially the abnormal nuclear localization of GCK. Additional studies should be performed to confirm this possibility.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Diabetes Research and Clinical Practice - Volume 85, Issue 1, July 2009, Pages 20–23
نویسندگان
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