title: Genetic variations of human CYP2D6 in the Chinese Han population.
abstract: OBJECTIVE
  The purpose of this study was to determine the genetic polymorphisms of the CYP2D6 gene and to elucidate the allele distribution pattern in the Chinese Han population.
  
  
  METHODS
  We used PCR and bidirectional sequencing methods to analyze all nine exons of the CYP2D6 gene in 2129 unrelated, healthy Chinese Han subjects from two geographical locations in China: the northern and southern regions.
  
  
  RESULTS
  In total, 165 mutated sites were detected in 2129 participants, of which 67 sites were reported for the first time. Among these novel mutation sites, 22 were nonsynonymous and 12 were named as novel alleles (*87-*93, *94A, *94B and *95-*98) by the Human CYP Allele Nomenclature Committee. In addition, 29 previously reported alleles and 84 genotypes were also detected in 1954 volunteers. Functional prediction of novel variants revealed that eight variants might have a deleterious effect on CYP2D6. Linkage disequilibrium analysis and tagSNP selection were performed separately. By using these methods, distinct differences were found between the two regions.
  
  
  CONCLUSIONS
  This study provides the most comprehensive data concerning CYP2D6 polymorphisms in the Chinese Han population to date and increases the number of known alleles; these findings may greatly contribute to the development of personalized medicine for the Chinese Han population.
authors.affiliation: The Key Laboratory of Geriatrics, Beijing Hospital & Beijing Institute of Geriatrics, Ministry of Health, No. 1, Dahua Road, Dongdan, Beijing 100730, PR China and Graduate School, Wenzhou Medical University, University-town, Wenzhou, Zhejiang 325035, PR China.
authors.forename: Jian-Chang
authors.initials: JC
authors.lastname: Qian
authors.forename: Xin-Min
authors.initials: XM
authors.lastname: Xu
authors.forename: Guo-Xin
authors.initials: GX
authors.lastname: Hu
authors.forename: Da-Peng
authors.initials: DP
authors.lastname: Dai
authors.forename: Ren-Ai
authors.initials: RA
authors.lastname: Xu
authors.forename: Li-Ming
authors.initials: LM
authors.lastname: Hu
authors.forename: Fang-Hong
authors.initials: FH
authors.lastname: Li
authors.forename: Xiu-Hua
authors.initials: XH
authors.lastname: Zhang
authors.forename: Jie-Fu
authors.initials: JF
authors.lastname: Yang
authors.forename: Jian-Ping
authors.initials: JP
authors.lastname: Cai
mesh_terms: D000483:Alleles; D000595:Amino Acid Sequence; D002681:China; D019389:Cytochrome P-450 CYP2D6 / Q000737:chemistry / Q000235:genetics*; D005787:Gene Frequency; D056726:Genetic Association Studies; D005828:Genetics, Population; D006801:Humans; D015810:Linkage Disequilibrium; D020641:Polymorphism, Single Nucleotide; D011487:Protein Conformation
chemical_list: D019389:Cytochrome P-450 CYP2D6