1. MSc Genetic , Azad University , Fars, Jahrom 2. Clinical & Molecular Geneticist, Shiraz University of Medical Sciences, Shiraz, Iran ‡Hematology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran
Generally, the prevalance of diabetes has been increasing all over the world and asia is at the center of this increase. the percentage of maturity onset diabetes of the young (mody) patients who are under 45 years old (or single gene diabetes) is 2% of all types of diabetes. mody3 is one of the mody types, which is mainly caused by heterozygote mutations of hepatic nuclear factor 1 alpha (hnf1a) in hepatic cells. the aim of this study is to investigate the hnf1a probable mutations in the lar population, in order to identify the role of this gene in diabetes incidence among this population.
in this study, 30 diabetic patients, including 15 females and 15 males were enroled. whole gene analysis was accomplished by sequencing technique and mutation as well as haplotype anaysis was performed.
In this population, 4 mutations (3 missense mutation) and 13 single nucleotide polymorphismic variation were detected. the frequency of reference allel a and polymorphic allel c in the c.79a>g position was 51.7% and 48.3% respectively, the frequency of reference allel c and allel t in c.293c>t position was 95% and 5% respectively, the frequency of reference allel g and polymorphic allel c in c.864g>c position was 88.3% and 11.7% respectively, the frequency of reference allel g and polymorphic allel a in c.1460g>a position was 46.7% and 53.3% respectively.
no significant difference in fasten blood sugar (fbs) amounts was observed between males and females in this population, but the average of age and hba1c was significantly lower in females than males.
genetic pattern of diabetic in the area has a wide spectrum variation and mody3 covers about 10% of all cases.