中国输血杂志2017，Vol.30Issue(8)：863-866,4.DOI:10.13303/j.cjbt.issn.1004-549x.2017.08.003
EPAS1基因不同单体型与高原低氧适应的相关性研究
Study on the relationship between EPAS1 gene haplotype and high altitude hypoxia adaptation
摘要
Abstract
Objective This study aims to explore the difference in EPAS1 gene variation between the Tibetans who are conditioned to live at a higher altitude and individuals conditioned to a normal altitude and oxygen level.We also focus to further analyze the correlation between the EPAS1 gene mutation and hypoxic adaptation for people hving at plain areas upon entering hypoxic environment with high altitudes.Methods The blood samples were chosen from 50 Tibetans at Tibet high altitude and 100 Han people in Chengdu at 500 m above see level.Genomic DNA was extracted from these blood samples.The single nucleotide polymorphisms (SNPs) of EPAS1 gene were screened by polymerase chain reaction (PCR) and sequencing.Threshold values were drawn in hemoglobin (Hb) at ≥ 35g/ L,red blood cell (RBC) count at ≥ 1 × 1012/L and hematocrit (Hct) at 0.1 for the 50 Han people entering higher altitudes,yielding a experiment group of 20 cases and the rest 30 samples functioned as the control group.We then analyzed hematological changes in patients with different haplotypes.Results The A allele frequency of EPAS1 gene rs13419896 in Tibetans and Han was 88.0％ and 27.0％,respectively while the A allele frequency of rs1868092 was 80.0％ and 10.0％.These two groups presented significant differences (P＜0.000).For SHEsis constructed haplotypes,the results demonstrated that the haplotypes A-A of rs13419896 and rs1868092 in the experiment group were significantly lower than in the control group (P＜0.05,OR =0.032,95％ CI=0.003-0.382).Conclusion The variation of EPAS1 gene rs13419896 (G＞A) and rs1868092 (G＞A) were associated with hypoxic adaptation in high altitude in Tibetans.Upon entering higher altitudes,the Hanpeople carrying the EPAS1 haplotype rs13419896 and rs1868092 (A-A) better adapted to the hypoxia environment with reduced blood viscosity,which is beneficial to plateau hypoxia acclimatization.关键词
EPAS1基因/单核苷酸多态性/血液学指标/高原低氧适应Key words
EPAS1 gene/single nucleotide polymorphisms/hematological indicators/high altitude hypoxic adaptation分类
医药卫生引用本文复制引用
李翠莹,于丽君,李小薇,刘娟,雷慧芬,李景琦,熊梅,甘新宇,肖洁,黄菲..EPAS1基因不同单体型与高原低氧适应的相关性研究[J].中国输血杂志,2017,30(8):863-866,4.基金项目
全军后勤科研重大专项子项(AWS13J004) （AWS13J004）
