[Establishing the linkage disequilibrium pattern for the all-trans-retinol dehydrogenase (RDH8) gene].
OBJECTIVE
As part of an on-going effort to map genes involved in complex eye diseases, myopia in particular, single nucleotide polymorphisms (SNPs) and linkage disequilibrium (LD) pattern were used to identified the gene within and around the All-trans-retinol dehydrogenase (RDH8).


METHODS
Denaturing high-performance liquid chromatography (DHPLC) was used to screen SNPs in 4 DNA pools each consisting of DNA from five individuals, and genotypes identified SNPs coupled with DNA pooling strategy were performed in 150 Chinese subjects from Hong Kong. The identified common SNPs were included in LD and haplotype analysis using the Haploview2.05 and EH programs.


RESULTS
Fifteen SNPs were identified: 7 were common with the minor allele frequency > 0.05, and 10 were novel. Four SNPs in the 3' region exhibited significant LD (/|D'/ > 0.75 and its confidence interval suggesting strong LD, r2 > 0.33, P < 0.031) and formed a haplotype block while 3 common SNPs in the 5' region did not exhibit obvious LD.


CONCLUSIONS
The block-like LD pattern existed around the RDH8 gene region suggest that one SNP (RDH8E5a probably) in the 3' region and at least 2 SNPs in the 5' region (RDH851 particularly) were needed in association studies involving RDH8.
Han
Wei
W
Department of Ophthalmology, the First Affiliated Hospital, Medical College, Zhejiang University, Hangzhou 310003, China. hanweihz@yahoo.com.cn
Shen
Ye
Y
Wang
Jing
J
Yip
Sheaping
S
Yap
Maurice K H
MK
D000429:Alcohol Oxidoreductases / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D002851:Chromatography, High Pressure Liquid / Q000379:methods; D005787:Gene Frequency; D006801:Humans; D015810:Linkage Disequilibrium / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*
D000429:Alcohol Oxidoreductases; C113992:trans-retinol dehydrogenase