Detecting the polymorphism of methylenetetrahydrofolate reductase gene by denaturing high performance liquid chromatography / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To establish a method for detecting the polymorphism of methylenetetrahydrofolate reductase gene (MTHFR).</p><p><b>METHODS</b>The MTHFR was amplified, and the amplified products were detected by denaturing high performance liquid chromatography (DHPLC), and the amplified MTHFR was confirmed by sequencing and restriction enzyme digesting.</p><p><b>RESULTS</b>A total of 334 individuals of Han people in southern China were recruited in our study, and their polymorphisms of MTHFR were detected. The accurate rate of the DHPLC method, that was very sensitive with 100% detection rate available, was over 99%. The frequencies of CC, CT and TT genotypes were 56.9%, 38.3% and 4.8% individually, and the frequencies of T and C alleles were 23.95% and 76.05% individually.</p><p><b>CONCLUSION</b>The DHPLC method can detect polymorphism of MTHFR rapidly, effectively and economically. And there is the existence of different MTHFR polymorphisms in area and race.</p>