الفهرس 
Diabetes [Diabetes Mellitus; DM]Only 14 pages are availabe for public view
 |  | from | 211 |  |  |
| | | from | 211 | | |
Abstract
Maturity Onset Diabetes of the Young (MODY), which comprises between 1 to 5% of all the cases of diabetes, is characterized by monogenic autosomal dominant inheritance, early onset (usually before 25 years of age), with dysfunction of pancreatic cells.
This study aimed to explore possible mutations in the HNF-1α gene with relation to Egyptian patients clinically diagnosed as MODY-3 diabetes. Also to relate the clinical profile of these patients with their molecular characterization.
Genomic DNA was extracted from blood of 8 diabetic children patients characterized by C-peptide ≥ (1.3 nmol/L) with body mass index (MBI) ranging from obese to severe obese. Other clinical diagnosis were FBS (180 mg/dl ±54.32), PPS (265.6 mg/dl ± 74.7), HbA1c (≥ 8.93% ± 3.9) and HOMA-IR (0.96 ± 0.366). Extracted DNA subjected for PCR amplification reaction with oligonucleotides flanking regions of promoter and 10 exons of HNF-1α gene. Exact sized of amplified fragments were confirmed by electrophoresis, and then samples were purified and sequenced to recognize the mutations.
Molecular analysis of the amplified fragments revealed twenty-seven variations in the HNF-1α gene. Five of them were detected in the promoter region and other twenty-two mutations .