Application of DHPLC in human genomic SNP screening and genotyping for all-trans-retinol dehydrogenase.
- Author:
Wei HAN
1
;
Ding-hua LOU
;
Jing WANG
;
Sheaping YIP
;
Mauric YAP
Author Information
- Publication Type:Journal Article
- MeSH: Alcohol Oxidoreductases; genetics; Chromatography, High Pressure Liquid; methods; Genotype; Humans; Point Mutation; Polymorphism, Single Nucleotide; genetics; Sequence Analysis, DNA
- From: Journal of Zhejiang University. Medical sciences 2005;34(3):248-254
- CountryChina
- Language:Chinese
-
Abstract:
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.
