Detecting MTHFR gene mutation with a new approach: molecular beacons / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To detect the methylenetetrahydrofolate reductase(MTHFR) gene C677T mutation with molecular beacon technique and assess the revant applicability.</p><p><b>METHODS</b>A total of 228 samples were analyzed using molecular beacons which are oligonucleotide probes to become fluorescent upon hybridization. Wild-type molecular beacon and mutant beacon were designed to detect the genotypes of MTHFR gene.</p><p><b>RESULTS</b>Analysis of the 228 samples indicated that there were three genotypes including 41 homozygous mutants, 113 heterozygous individuals and 74 wild-type individuals. Every sample was identified clearly.</p><p><b>CONCLUSION</b>The present method, a closed-tube PCR/hybridization assay, is a simple, high-throughput and fast procedure that is fully automated for detecting gene mutation.</p>