title: [Association between diversity of hypoxia at different altitude and the polymorphism of EPAS1 gene].
abstract: OBJECTIVE
  To study the selection effect of endothelial PAS domain protein 1 (EPAS1) gene induced by high altitude hypoxia environment.
  
  
  METHODS
  Fourteen single nucleotide polymorphism sites (SNPs) of the  EPAS1 gene were genotyped using PCR-restriction fragment length polymorphism (PCR-RFLP) in three Tibetan groups (58 samples from Tibetan living in an altitude of about 3700 meters above sea level, 47 from Qinghai province, about 3100 meters above sea level, 43 from Yunnan province, about 2500 meters above sea level), and Han of Shandong (47 samples, about 50 meters above sea level).
  
  
  RESULTS
  There were significant differences of most SNP allelic, genotypic and haplotypic frequencies when comparing Han of Shandong, Tibetan of Yunnan with Tibetan of Tibetan and Qinghai. But no difference between Han of Shandong and Tibetan of Yunnan was found.
  
  
  CONCLUSIONS
  The EPAS1 gene might be under hypoxic selection induced by high altitude.
authors: Department of Medical Genetics, Chinese Academy of Medical Sciences, Kunming, Yunnan, People's Republic of China.
authors: Jin-kun
authors: JK
authors: Ke
authors: Yu-feng
authors: YF
authors: Yao
authors: Shu-yuan
authors: SY
authors: Liu
authors: Lei
authors: L
authors: Shi
authors: Liang
authors: L
authors: Yu
authors: Ke-qin
authors: KQ
authors: Lin
authors: Yu-fen
authors: YF
authors: Tao
authors: Li
authors: L
authors: Shi
authors: Wen
authors: W
authors: Yi
authors: Xiao-qin
authors: XQ
authors: Huang
authors: Jia-you
authors: JY
authors: Chu
mesh_terms: D000483:Alleles; D000532:Altitude Sickness / Q000235:genetics*; D051792:Basic Helix-Loop-Helix Proteins / Q000235:genetics*; D002681:China; D005787:Gene Frequency; D006239:Haplotypes; D006801:Humans; D000860:Hypoxia / Q000235:genetics*; D015810:Linkage Disequilibrium; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D000099162:Endothelial PAS Domain-Containing Protein 1
chemical_list: D051792:Basic Helix-Loop-Helix Proteins; D000099162:Endothelial PAS Domain-Containing Protein 1