[Application of DHPLC in human genomic SNP screening and genotyping for all-trans-retinol dehydrogenase].
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.



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.



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.



The results demonstrated the efficiency of DHPLC in screening SNPs when coupled with DNA pooling strategy, and in genotyping SNPs.
Han
Wei
W
The First Affiliated Hospital College of Medicine, Zhejiang University, Hangzhou 310003, China.
Lou
Ding-hua
DH
Wang
Jing
J
Yip
Sheaping
S
Yap
Mauric
M
D000429:Alcohol Oxidoreductases / Q000235:genetics*; D002851:Chromatography, High Pressure Liquid / Q000379:methods; D005838:Genotype; D006801:Humans; D017354:Point Mutation; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D017422:Sequence Analysis, DNA
D000429:Alcohol Oxidoreductases; C113992:trans-retinol dehydrogenase