EGLN1基因两个位点多态性与藏族人群高原低氧适应的关系

目的 探讨西藏藏族人群EGLN1基因2个SNP(单核苷酸多态性)位点rs479200（C/T）、rs480902（T/C）多态性与高原低氧适应的相关性。
方法 选取世居西藏拉萨藏族150人及辽宁汉族150人的血样，提取白细胞基因组DNA，应用限制性片段长度多态性-聚合酶链反应（PCR-RFLP）技
术检测EGLN1基因2个SNP位点，分析其多态性特征。结果 rs479200位点等位基因C等位基因频率在藏族人和汉族人分别为71.33%和38.17%，
rs480902位点等位基因T等位基因频率在藏族人和汉族人分别为66.67%和36.67%，两组比较差异显著（P<0.01）；rs479200位点TT、TC和CC基因
型频率在藏族人和汉族人分别为6.67%和56.67%、29.33%和33.33%、64%和10%，rs480902位点TT、TC和CC基因型频率在藏族人和汉族人分别为
60.67%和9.33%、30.66%和28.67%、8.67%和62%。两位点TC基因型两组比较差异无统计学意义；TT和CC基因型两组比较差异均显著（P<0.01）。
结论 EGLN1基因rs479200（C/T）和rs480902（T/C）SNP位点多态性与西藏藏族适应高原低氧环境存在相关性。rs479200位点的CC基因型和
rs480902位点的TT基因型可能更有利于适应低氧环境。

Association of polymorphisms of rs479200 and rs480902 in EGLN1 gene with hypoxia adaptation in high altitude in Tibetans

Objective To investigate the association of single nucleotide polymorphisms(SNPs) of rs479200(C/T) and rs480902
(T/C)-EGLN1 with hypoxia adaptation in high altitude in Tibet. Methods The blood samples were chosen from 150 Tibetans in
Tibet high altitude region and 150 Han nationality people in Liaoning province, and genomic DNA was extracted from the blood
samples. The single nucleotide polymorphisms of EGLN1 gene were examined by restriction fragment length polymorphism-polymerase
chain reaction(RFLP-PCR). Results The allele(C) frequency of EGLN1 gene rs479200 in Tibetans and in Han nationality was 71.33%
and 38.17%,and the allele(T) frequency of rs480902 was 66.67% and 36.67%. The genotype frequency of EGLN1 gene rs479200 in
Tibetans and in Han nationality was 6.67% and 56.67% in TT genotype,29.33% and 33.33% in TC genotype and 64% and 10% in CC
genotype. The genotype frequency of rs480902 was 60.67% and 9.33% in TT genotype,30.66% and 28.67% in TC genotype and 8.67%
and 62% in CC genotype. TT genotype frequency of rs479200 in Tibetans was lower than that in Han nationality (P<0.01),while
CC genotype frequency of rs479200 in Tibetans was higher than that in Han nationality(P<0.01). No significant difference in
CT genotype frequency of rs479200 and rs480902 was observed between two groups respectively. Conclusion Polymorphisms of EGLN1
gene rs479200 and rs480902 are associated with hypoxia adaptation in high altitude in Tibetans．CC genotype of rs479200 and
TT genotype of rs480902 may be benefit to hypoxia adaptation.