变性高效液相色谱法检测中国汉族人SCN1A外显子16T1067A基因多态性

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

目的建立检测SCN1A外显子16T1067A单核苷酸多态性（SNP）的变性高效液相色谱（DHPLC）方法，并检测中国汉族人SCN1A外显子16T1067A基因多态性。方法设计针对SCN1A编码区引物，应用DHPLC技术检测其序列多态性，并检测127例中国汉族人SCN1A外显子16T1067A基因多态性。结果127例汉族人中，SCN1AT1067AAA、AG、GG表型频率分别为0．8031、0．1969、0，SCN1AT1067AA、SCN1AT1067AG基因频率分别为0．9016、0．0984。结论DHPLC简便、快速、准确，适合于大规模的人群调查。SCN1A外显子16T1067A基因多态性在不同种族间分布存在着明显的差异。

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 Han 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. SCN1A TlO67A gene distribution in the Han Chinese is different from those in other areas.