• Wen-Chung Wang, Hui-Ju Chen, Wei-Pang Shu, Yi-Chang Tsai, and Yen-Chein Lai.
• Department of Obstetrics and Gynecology, Jen-Ai Hospital, Taichung, Taiwan.
• J Formos Med Assoc. 2011 Oct 1; 110 (10): 646651646-51.

BackgroundThe von Hippel-Lindau (VHL) tumor suppressor gene located on chromosome 3p25-26 is implicated in VHL disease. Two informative single nucleotide polymorphisms are at positions 19 and 1149 on the nucleotide sequence from Gene Bank NM_000551. In this study we examined the allele frequencies at these two loci in the Taiwanese population and compared the results to those from European ethnic populations.MethodsThe allele frequency was examined in 616 healthy individuals including 301 university students and 315 neonates. Both A/G polymorphisms were investigated using restriction fragment length polymorphism analysis created by restriction enzymes, BsaJ I and Acc I.ResultsAmong these subjects, the allele frequencies at 19 SNP and 1149 SNP for variant G were 0.130 and 0.133, respectively. And these results were significant differences from those of the Caucasian populations. In addition, 90% of the tested subjects had identical genotypes at these two loci suggesting the existence of nonrandom association of alleles.ConclusionWe found that the G allele frequency at these two loci in the Taiwanese population is much lower than that in people from Western countries. This phenomenon may be attributed to ethnic effects.Copyright © 2011. Published by Elsevier B.V.

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