Detecting the SCN1A 16 exon T1067A polymorphisms in Him Chinese with denaturing high-performance liquid chromatography

Objective To analyze SCN1A 16 exon T1067A single nucleotide polymorphisms(SNP) in coding area and establish an effective technique of denaturing high-performance liquid chromatography (DHPLC) to screen SCN1A T1067A SNPs and its frequency in Hun Chinese population. Methods The primers were designed based on segments from SCN1A coding region. Segments'SNPs and SCNIA 16 exon T1067A polymorphisms in Han Chinese (n=127) were detected by DHPLC. Results One hundred and twenty-seven healthy individuals were investigated with this DHPLC method. Gene frequency of SCN1A T1067A was as follows: SCN1A T1067A AA, AG, GG genotype frequency:0.8031,0.1969,0; SCN1A T1067A A,SCN1A T1067A G gene frequency: 0.9016,0.0984. Conclusions The DHPLC method is a rapid and simple technique for obtaining accurate results and also suitable for large-scale population studies.SCNIA T1067A gene distribution in the Han Chinese is different from those in other areas. Key words: SCN1A; Single nucleotide polymorphisms; Denaturing high performance liquid chromatography