OBJECTIVETo 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.

METHODSDHPLC 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.

RESULTSSeventeen 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.

CONCLUSIONThe results demonstrated the efficiency of DHPLC in screening SNPs when coupled with DNA pooling strategy, and in genotyping SNPs.

Alcohol Oxidoreductases ; genetics ; Chromatography, High Pressure Liquid ; methods ; Genotype ; Humans ; Point Mutation ; Polymorphism, Single Nucleotide ; genetics ; Sequence Analysis, DNA