title: Novel DNA sequence variations of cytochrome P450 genes in the Han Chinese population.
abstract: OBJECTIVE
  Cytochrome P450 is an important monooxygenase responsible for the metabolism of a large variety of structurally diverse compounds. The aim of this study was to systematically investigate the DNA sequence variations in 14 cytochrome P450 genes relevant to drug metabolism in the Han Chinese population.
  
  
  METHODS
  We sequenced these 14 genes in 23 subjects and determined the allele frequencies.
  
  
  RESULTS
  We identified a total of 312 genetic variants, which included 80 (25.6%) novel variants. These novel variants included 67 noncoding variants, four synonymous and nine nonsynonymous variants. Among these variants, an 11-nucleotide insertion in the 3-flanking site of intron 6 in CYP2E1 (c.968-77_-76insGATGGGTGGAT) had the highest allele frequency of 0.565. A total of 16 of these novel variants were predicted to have potential functional consequences; however, among them only c.-1299T>A in CYP2C18 and c.-498C>A in CYP2D6 reached a frequency of 4.9%.
  
  
  CONCLUSIONS
  This study establishes a genetic database of cytochrome P450 genes in the Han Chinese population and suggests further genetic diversity throughout this important gene family.
authors.affiliation: Institute of Biomedical Sciences, Academia Sinica, No 128, Sec. 2, Academia Road, Nankang, Taipei 11529, Taiwan.
authors.forename: Hui-Hung
authors.initials: HH
authors.lastname: Wang
authors.forename: Yie-Wen
authors.initials: YW
authors.lastname: Liao
authors.forename: Hung-Lun
authors.initials: HL
authors.lastname: Chiang
authors.forename: Jer-Yuarn
authors.initials: JY
authors.lastname: Wu
authors.forename: Yuan-Tsong
authors.initials: YT
authors.lastname: Chen
mesh_terms: D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D019392:Cytochrome P-450 CYP2E1 / Q000235:genetics; D003577:Cytochrome P-450 Enzyme System / Q000235:genetics*; D004251:DNA Transposable Elements; D030541:Databases, Genetic; D005787:Gene Frequency; D014644:Genetic Variation; D005838:Genotype; D005843:Geography; D006801:Humans; D007438:Introns; D011110:Polymorphism, Genetic; D012016:Reference Values; D013624:Taiwan
chemical_list: D004251:DNA Transposable Elements; D003577:Cytochrome P-450 Enzyme System; D019392:Cytochrome P-450 CYP2E1