title: Systematic polymorphism analysis of the CYP2D6 gene in four different geographical Han populations in mainland China.
abstract: In this study, we systematically screened the polymorphisms of the whole CYP2D6 gene in the populations of four different geographical locations in China, namely, Shanghai, Shantou, Shenyang, and Xi'an, using a sample of 100 subjects from each population. Forty-eight different polymorphisms were detected as well as 12 novel ones. One novel nonsynonymous SNP was detected, and one novel intronic SNP was revealed that might inactivate a cryptic donor site 392 nucleotides downstream of the exon 6 natural donor site. In addition, the frequencies of some polymorphisms and alleles demonstrated significant differences among the four populations. Linkage disequilibrium analysis and tag SNP selection were performed separately for each population. Haplotypes were analyzed within the selected tag SNPs. Tag SNP selection and haplotype distributions showed differences across the four populations. This is the first large-scale study to analyze polymorphisms systematically across the whole CYP2D6 gene in the Chinese Han population.
authors.affiliation: Bio-X Life Science Research Center, Shanghai Jiao Tong University, Hao Ran Building, Shanghai 200030, China.
authors.forename: Shengying
authors.initials: S
authors.lastname: Qin
authors.forename: Lu
authors.initials: L
authors.lastname: Shen
authors.forename: Aiping
authors.initials: A
authors.lastname: Zhang
authors.forename: Jing
authors.initials: J
authors.lastname: Xie
authors.forename: Wen
authors.initials: W
authors.lastname: Shen
authors.forename: Lingling
authors.initials: L
authors.lastname: Chen
authors.forename: Jimin
authors.initials: J
authors.lastname: Tang
authors.forename: Yuyu
authors.initials: Y
authors.lastname: Xiong
authors.forename: Lun
authors.initials: L
authors.lastname: Yang
authors.forename: Yongyong
authors.initials: Y
authors.lastname: Shi
authors.forename: Guoyin
authors.initials: G
authors.lastname: Feng
authors.forename: Lin
authors.initials: L
authors.lastname: He
authors.forename: Qinghe
authors.initials: Q
authors.lastname: Xing
mesh_terms: D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics*; D002681:China; D019389:Cytochrome P-450 CYP2D6 / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005828:Genetics, Population; D006801:Humans; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic
chemical_list: D019389:Cytochrome P-450 CYP2D6