Liu Kun-xiang, Sun Xue-chuan, Wang Sheng-wei, Hu Bin
Institute of Biomedical Engineering, West China Medical Center, Sichuan University, Chengdu, Sichuan, 610041 PR China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2007 Apr;24(2):230-2.
To investigate the association of single nucleotide polymorphisms (SNPs) of 1772 (C-->T) and 1790 (G-->A) in exon 12 of hypoxia-inducible factor 1, alpha subunit gene (HIF1A) with hypoxia adaptation in high altitude in Sherpas.
The blood samples were chosen from 148 Sherpas in Tibet high altitude and 90 Han nationality healthy people in Guangdong province, and from which genomic DNA was extracted. The single nucleotide polymorphisms of 1772(C-->T) and 1790(G-->A) in exon 12 of HIF1A gene were examined by restriction fragment length polymorphism-polymerase chain reaction (RFLP-PCR).
The genotype frequency of HIF1A gene 1790 (G-->A) in Sherpas and Han nationality was 57.43% versus 75.56% in GG genotype, 37.84% versus 21.11% in GA genotype and 4.73% versus 3.33% in AA genotype. GG genotype frequency in Sherpas was lower than that in Han nationality (P<0.01), while GA genotype frequency in Sherpas was higher than that in Han nationality (P<0.01). No significant difference in CC, CT and TT genotype frequency of 1772(C-->T) was shown between two groups respectively. The total frequency of CC + GA, CT + AA, TT + GA and TT + AA in Sherpas was higher than that in Han nationality.
Polymorphisms of HIF1A gene 1790 (G-->A) are associated with hypoxia adaptation in high altitude in Sherpas. GA and AA genotype may be benefit to hypoxia adaptation, and it is worthy of deep-going investigation.
研究低氧诱导因子1α亚基基因（HIF1A）第12外显子中1772（C→T）和1790（G→A）单核苷酸多态性（SNP）与夏尔巴人高原低氧适应的关系。
选取西藏高原地区148名夏尔巴人和广东省90名汉族健康人的血样，从中提取基因组DNA。采用限制性片段长度多态性-聚合酶链反应（RFLP-PCR）检测HIF1A基因第12外显子中1772（C→T）和1790（G→A）的单核苷酸多态性。
夏尔巴人和汉族中HIF1A基因1790（G→A）的基因型频率分别为：GG基因型57.43%对75.56%，GA基因型37.84%对21.11%，AA基因型4.73%对3.33%。夏尔巴人GG基因型频率低于汉族（P<0.01），而GA基因型频率高于汉族（P<0.01）。两组1772（C→T）的CC、CT和TT基因型频率差异均无统计学意义。夏尔巴人CC+GA、CT+AA、TT+GA和TT+AA的总频率高于汉族。
HIF1A基因1790（G→A）多态性与夏尔巴人高原低氧适应有关。GA和AA基因型可能有利于低氧适应，值得深入研究。
