Related Experiment Video
Updated: Aug 17, 2026
Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
[Application of DHPLC in human genomic SNP screening and genotyping for all-trans-retinol dehydrogenase]
Wei Han1, Ding-hua Lou, Jing Wang
1The First Affiliated Hospital College of Medicine, Zhejiang University, Hangzhou 310003, China.
Objective:
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.
Methods:
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.
Results:
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.
Conclusion:
The results demonstrated the efficiency of DHPLC in screening SNPs when coupled with DNA pooling strategy, and in genotyping SNPs.
