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目的探讨EPAS1基因突变位点在世居高原和世居平原人群中的差异,并进一步分析其与世居平原人群进入高原后低氧适应的相关性。方法选择西藏藏族50名和平原汉族100名作为研究对象,提取DNA,应用聚合酶链式反应(PCR)技术结合测序进行EPAS1基因2个单核苷酸多态位点(SNPs)rs13419896,rs1868092检测。选择50名汉族进入高原前后血红蛋白(Hb)差值≥35 g/L、红细胞计数(RBC)差值≥1×1012/L和红细胞比容(Hct)差值≥0.1共20名作为观察组,其余30名作为对照组,分析2组之间携带不同单体型者血液学指标变化。结果rs13419896位点A等位基因频率在藏族和汉族中分别为88.0%和27.0%,rs1868092位点A等位基因频率在藏族和汉族中分别为80.0%和10.0%,两组比较均具有统计学差异(P<0.000)。SHEsis构建单体型结果发现,观察组中rs13419896和rs1868092单体型(A-A)显著低于对照组(P<0.05,OR=0.032,95%CI=0.003-0.382)。结论 EPAS1基因rs13419896(G>A)和rs1868092(G>A)位点突变与西藏藏族适应高原低氧环境存在相关性。汉族人群进入高原后,携带EPAS1单体型rs13419896和rs1868092(A-A)既能更好地适应高原低氧环境,又可以降低自身血液黏滞度,利于高原低氧习服。
Objective To investigate the difference of EPAS1 gene mutation loci in the plateau and native plains, and to further analyze the correlation between EPAS1 locus and hypoxia adaptation after entering the plateaus. Methods Fifty Tibetan and 50 Tibetan natives of Tibet were selected as research objects. DNA was extracted and two single nucleotide polymorphisms (SNPs) rs13419896 and rs1868092 of EPAS1 gene were detected by polymerase chain reaction (PCR) and sequencing. 50 HAN patients were selected as observational group with Hb difference ≥35 g / L, RBC difference ≥1 × 1012 / L and Hct difference ≥0.1 before and after entering the plateau. The remaining 30 as a control group, analysis of the two groups carrying different haplotype hematological changes. Results The frequencies of allele A at rs13419896 locus were 88.0% and 27.0% in Tibetan and Han nationalities, respectively. The frequency of allele A at rs1868092 loci was 80.0% and 10.0% in Tibetan and Han nationality, respectively, with statistical significance Differences (P <0.000). SHEsis haplotype construction found that rs13419896 and rs1868092 haplotype (A-A) in the observation group was significantly lower than the control group (P <0.05, OR = 0.032, 95% CI = 0.003-0.382). Conclusion The mutations of rs13419896 (G> A) and rs1868092 (G> A) sites in EPAS1 gene are associated with the adaptation of Tibetans to the hypoxia environment. Han population into the plateau, carrying EPAS1 haplotypes rs13419896 and rs1868092 (A-A) can better adapt to plateau hypoxic environment, but also can reduce their own blood viscosity, conducive to plateau hypoxia acclimation.