title: The allele frequency of two single nucleotide polymorphisms in the von Hippel-Lindau (VHL) tumor suppressor gene in the Taiwanese population.
abstract: BACKGROUND
  The 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.
  
  
  METHODS
  The 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.
  
  
  RESULTS
  Among 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.
  
  
  CONCLUSIONS
  We 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.
authors: Department of Obstetrics and Gynecology, Jen-Ai Hospital, Taichung, Taiwan.
authors: Wen-Chung
authors: WC
authors: Wang
authors: Hui-Ju
authors: HJ
authors: Chen
authors: Wei-Pang
authors: WP
authors: Shu
authors: Yi-Chang
authors: YC
authors: Tsai
authors: Yen-Chein
authors: YC
authors: Lai
mesh_terms: D000328:Adult; D000483:Alleles; D044466:Asian People / Q000235:genetics*; D005787:Gene Frequency; D006801:Humans; D007231:Infant, Newborn; D020641:Polymorphism, Single Nucleotide; D013624:Taiwan; D051794:Von Hippel-Lindau Tumor Suppressor Protein / Q000235:genetics*; D044465:White People / Q000235:genetics*; D055815:Young Adult
chemical_list: D051794:Von Hippel-Lindau Tumor Suppressor Protein