肺表面活性物质相关蛋白A基因多态性与高原低氧适应性关系(英文)

Relationship between Polymorphism of Pulmonary Surfactant Protein A Gene and Adaptation to Hypobaric Hypoxia

目的探讨中国平原汉族人与高原藏族登山运动员肺表面活性物质相关蛋白A(surfactant proteinA,SP-A)基因单核苷酸多态性与低氧适应性关系。方法应用引物序列特异性聚合酶链反应(polymer-ase chain reaction-sequence specific primer,SSP-PCR),检测SP-A基因在86例藏族登山运动员与90名汉族平原人中基因型构成比和等位基因频率的分布。结果86例藏族登山运动员在SP-A1基因aa62位点A/A,A/G和G/G3种基因型和SP-A2基因aa223位点C/C,A/C和A/A3种基因型的构成比与平原汉族对照组比较差异有统计学意义(P<0.05)。aa62G/G基因型和aa223A/C基因型在高原藏族组具有明显的优势比;在SP-A1基因aa219位点各基因型和等位基因在高原藏族组和平原汉族对照组之间的分布无显著性差异(P>0.05)。结论SP-A基因在A1-aa62和A2-aa223位点单核苷酸多态性可能和藏族人对低氧的适应性有关。

Objective To investigate the relation between polymorphisms of pulmonary surfactant protein A gene and adaptation to hypobaric hypoxia. Methods The genotype proportions and allel frequencies of 86 Tibetan mountaineers and 90 sea-level Hans were examined with polymerase chain reaction-sequence specific primer（SSP-PCR） reaction for surfactant protein A gene. Results The constituent ratio of A/A,A/G and G/G genotypes in A1-aa62 locus and C/C,A/C and A/A genotypes in A2-aa223 locus showed significant statistic difference between highland group and the sea-level control group（P〈0.05）. A1-aa62 G/G and A2-aa223 A/C genotype demonstrated high odds ratio in Tibetan mountaineers. Moreover, the comparisons of genotypes and alleles in A1-219 locus showed no significant difference between the plateau group and the sea-level Han control（P〉0.05）. Conclusion The single-nucleotide polymorphisms（SPN） in SP-A1aa62 and SP-A2aa223 may be associated with the adaptation to hypobaric hypoxia.