This study was undertaken to investigate the frequency of the HNF-1α A98V mutation in Mashhad population with RFLP-PCR. The genomic DNA of 41 patients with onset diabetes ≤35 (male/female: 12/29) , 59 patients with onset diabetes ≥35 years (male/female: 22/37), and fifty normal individuals (male/female: 47/13) was extracted and the exon 1 of human HNF-1α gene was amplified . The PCR products of exon 1 were digested by HaeIII restriction endonuclease and analyzed on the agarose gel. We identified four patients (9.7%) in the early-onset type 2 diabetes group carrying heterozygote mutations in exon 1 of the HNF-1 alpha gene (Ala98Val). Our study has demonstrated that Ala98Val plays a significant role in afflicting Iranian youth to diabetes. Therefore, we suggest that MODY3 mutation should be studied more seriously in diabetic patients.

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