title: Frequency distribution of single nucleotide polymorphisms in P-selectin gene in Chinese Tibetan and Han populations.
abstract: BACKGROUND
  Chinese Tibetans have a series of distinctive physiological traits which enable them to tolerate the extreme environment of the Tibetan plateau. P-selectin gene has been proved to be highly polymorphic in Europeans and Americans. Nevertheless, studies on either the frequency distributions of single nucleotide polymorphisms (SNPs) or haplotype diversity and linkage disequilibrium of P-selectin gene in Chinese Tibetan population are still unavailable.
  
  
  METHODS
  The frequency distributions of 3 SNPs in P-selectin gene promoter (-2123C/G, -1969A/G, -1817T/C) and 3 SNPs in exon region (Ser290Asn, Val599Leu, Thr715Pro) were investigated by real-time PCR and high-resolution melting method among 314 Chinese Tibetans and 328 age- and sex-matched Han people.
  
  
  RESULTS
  The frequencies of the -2123G and -1817T alleles among the Tibetan population had no significant differences from those of the Han population. Among the Tibetan population, the G allele frequency of -1969A/G and Ser290Asn were both higher than those of the Han population. Val599Leu and Thr715Pro did not show any polymorphism in the two populations. In the Tibetan population, -2123C/G, -1969A/G, -1817T/C and Ser290Asn were in tight linkage disequilibrium with each other.
  
  
  CONCLUSIONS
  The frequency distributions of -1969A/G and Ser290Asn polymorphisms in the Tibetan population were different from those in the Han population.
authors.affiliation: Department of Laboratory Medicine, West China Hospital, Sichuan University, Chengdu 610041, PR China. zingteng80@gmail.com
authors.forename: Ting-ting
authors.initials: TT
authors.lastname: Zeng
authors.forename: Yuan-xin
authors.initials: YX
authors.lastname: Ye
authors.forename: Qian
authors.initials: Q
authors.lastname: Niu
authors.forename: Xiao-jun
authors.initials: XJ
authors.lastname: Lu
authors.forename: You-fang
authors.initials: YF
authors.lastname: An
authors.forename: Xiao-ping
authors.initials: XP
authors.lastname: Li
authors.forename: Hong
authors.initials: H
authors.lastname: Jiang
mesh_terms: D044466:Asian People / Q000235:genetics; D005091:Exons; D005787:Gene Frequency; D006801:Humans; D019007:P-Selectin / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D018609:Tibet; D044465:White People / Q000235:genetics
chemical_list: D019007:P-Selectin