European Journal of Biomedical and Pharmaceutical Sciences

PILOT STUDIES ON THE PREVALENCE AND INCIDENCE OF HNF-1? EXON 2, EXON 4 SINGLE NUCLEOTIDE POLYMORPHISMS IN THE REGIONAL POPULATION OF SOUTH TAMILNADU, INDIA.

*Rohini Gomathinayagam, Kumaravel Velayutham, Balaji Ramanathan, Sivan Arul Selvan, Vishali Thavamani, Jeyasudha Murugan

ABSTRACT

Maturity onset diabetes of the Young (MODY) is a monogenic form of diabetes that is caused by mutations/ single nucleotide polymorphisms (SNPs) in a spectrum of genes. Amidst the most prevalently incident forms of MODY, the HNF-1α (Hepatocyte Nuclear factor 1α) MODY is associated with the aggressive disease pathogenesis. While a few studies have reported that HNF-1α MODY is incident in the south Indian population, population specific studies that enable evaluation and determination of the prevalence of HNF-1α gene variants in south Tamil Nadu is still lacking. Hence, the present study aims to assess the incidence of single nucleotide polymorphisms in the coding regions of exon 2, exon 4 of HNF-1α gene and the flanking intronic regions in clinically defined MODY patients. Whole genomic DNA from the patients and controls were utilized for obtaining PCR amplification of the genomic areas of interest and were assessed for the presence or absence of SNPs utilizing direct sequencing. The genotyping results reveal the presence of reported intron 1 variants and absence of MODY3 associated gene variants in exon 2, exon 4. About 78 % of the assessed study group exhibited the rs1169292 polymorphism, 100 % of the assessed participants presented the rs1169293 polymorphism and 78% of the population presented rs1169294 polymorphism. Cumulatively the results indicate that HNF-1α exon 2, exon 4 SNPs associated with MODY3 may be less prevalent in the population and that with further large scale studies, the HNF-1α intronic variants, haplotypes may also serve to predict population specific risk of incidence of MODY3.

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