Gene mapping with pooled samples on three genotyping platforms

摘要: Abstract We have evaluated three genotyping techniques to detect allelic association between single nucleotide polymorphisms (SNPs) and disease loci by using pooled DNA samples. The use of pools instead individual samples saves considerably time, quantity, reagent costs. methods that were compared PCR-restriction fragment length polymorphism (PCR-RFLP), Single primer extension, chip-based mass spectrometry. As a model we studied an autosomal recessive disorder, congenital chloride diarrhea (CLD), caused mutations in the human gene SLC26A3 on chromosome 7q31. Patient, carrier, control genotyped with eight SNP markers located within 10 cM around target gene. Measured allele frequencies consistent platforms detected cluster several SNPs, most significant being marker closest ( p =1.56×10 -16 ). largest source error was shown be volumetric preparing pools. PCR-RFLP method further applying pooling strategy ongoing multicenter-study. six agreed well those measured individually confirmed multiple are suitable for genotyping.