Rapid detection of phenotypes Bombay sedel and nonsecretor rs200157007 SNP (302C > T) by real-time PCR-based methods

Abstract The se del allele is one of the nonsecretor alleles ( ) FUT2 generated by an Alu-mediated recombination event and was first found in Indian Bombay phenotype individuals who have anti-H, anti-A, anti-B antibodies their serum. As well as antibodies, anti-H clinically significant because it causes sever hemolytic transfusion reactions. Like , 302 having a missense single nucleotide polymorphism (SNP), 302C > T, characteristic South Asians with frequency 10–30%. We developed real-time PCR melting curve analysis for detection using 127-bp amplicon encompassing breakpoint junction. In addition, performing duplex amplifying 65-bp coding region at same time, we could determine zygosity tube. also Eprobe-mediated assay (Eprobe-PCR) T FUT2. These methods were validated analyzing 58 Tamils 54 Sinhalese Sri Lanka. Both determination Eprobe-PCR exactly determined three genotypes. results present complete agreement those obtained previously established methods. two reliable seem to be advantageous large-scale association studies polymorphisms Asian populations.