Application of DHPLC in human genomic SNP screening and genotyping for all-trans-retinol dehydrogenase / 浙江大学学报·医学版

ABSTRACT

<p><b>OBJECTIVE</b>To assess the efficacy of denaturing high-performance liquid chromatography (DHPLC) as a new screening assay for sequence variation in SNP detecting and new approach to SNP genotyping.</p><p><b>METHODS</b>DHPLC was used to screen SNPs in 8 DNA pools each consisting of DNA from 5 individuals, and genotype the identified SNPs in 150 Chinese subjects from Hong Kong.</p><p><b>RESULTS</b>Seventeen SNPs were identified 12 were novel and 5 were previously reported; 11 were found in screening stage and the other 6 were found in genotyping stage; 2 were only found in Caucasian samples; 3 showed ethnic difference of minor allele frequency(MAF); 7 were common with the MAF>0.05 in Chinese samples.</p><p><b>CONCLUSION</b>The results demonstrated the efficiency of DHPLC in screening SNPs when coupled with DNA pooling strategy, and in genotyping SNPs.</p>