Secretor genotyping for A385T, G428A, C571T, C628T, 685delTGG, G849A, and other mutations from a single PCR

BACKGROUND: The secretor status of an individual is important for disease relationship studies, because it determines the presence of ABH blood group antigens in the gastrointestinal tract and bodily secretions. Routine serologic methods for determining secretor status are unreliable. Current strategies based on PCR for genotyping require relatively large amounts of DNA and have to be done as several separate experiments. STUDY DESIGN AND METHODS: A single, multiplex PCR technique followed by RFLP digestion with four restriction enzymes produced unique genotype profiles for most known secretor (FUT2) mutations. RESULTS: Samples from a range of individuals with common and rare secretor genotypes were analyzed. Each gave unique patterns that allowed secretor genotypes to be determined. CONCLUSION: By using the method described here and genomic DNA, a secretor genotype based on the FUT2 mutations A385T, G428A, C571T, C628T, 685delTGG, and G849A could be accurately determined.