A MOLECULAR STUDY OF HNF-1ALPHA GENE MUTATIONS IN MODY3 EGYPTIAN PATIENTS

• DOI: 10.12816/0034705
• Publication Date: 2017-06-08T09:26:37Z
• Authors: Monir El-ganzuri; Osama Zaki; Heba El-abd; Eman Barakat; Rehab Abdul-Mawgoud

Maturity onset diabetes of the young type 3 (MODY3) is a heterogeneous monogenic form mellitus caused by mutations in gene ''hepatocyte nuclear factor-1alpha'' (HNF-1alpha) which result poor insulin secretion response to glucose. The aim present study detect, for first time Egypt, HNF-1alpha Egyptian patients, and compare results patients with those other regions. This included eight diagnosed MODY3; their ages were between 12 17 years old. DNA extraction was carried out from blood samples, collected patients. Then, polymerase chain reaction (PCR) applied, each sample, on exons 6, 7, 8, 9 10 promoter 1 MODY3 (HNF-1alpha). Exon not amplified all attempts. direct sequence analyses preceding detected. obtained sequences aligned normal ones NCBI reference database accession number NM_000545.5. The yielded single nucleotide polymorphism (SNP), are missense silent mutations. maximum variants that SNPs. showed about 20 different SNPs detected 1. were: (i) one novel mutation c.1304T>A exon (ii) two c.1501+7G>A (IVS7+7G>A) c.1769-24T>C (IVS9-24T>C) intron 7 9, respectively, (iii) mutations, c.1375C>T c.1545G>A found respectively; (iv) c.1460G>A 7. ii, iii iv previously recorded populations. Thus, these we can suggest contribute disease population.