GLUT1基因单核苷酸多态性与夏尔巴人群高原低氧适应的关系
Association of single nucleotide poly morphisms of GLUT 1 gene with hypoxia adaptation in high altitude in Sherpas
王圣巍 1孙学川 2闫惠琴 2申勇2
作者信息
- 1. 延安大学医学院病理生理学教研室,陕西,延安,716000
- 2. 解放军军事体育进修学院,广东,广州,510500
- 折叠
摘要
目的:探讨夏尔巴人群葡萄糖转运体1(GLUT1)基因单核苷酸多态性(SNPs)与高原低氧适应性的关系.方法:用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法检测104例夏尔巴人及90名汉族对照个体GLUT1+22999(G→T),-2841(A→T)单核苷酸多态性,分析其特征.结果:夏尔巴人在+22999位点G/G,G/T,T/T 3种基因型构成分别为48.0%,41.3%和10.7%.而平原汉族对照组为66.7%,31.1%和2.2%,两组间差异有统计学意义(P=0.009).在+22999位点,以变异基因型(G/T+T/T)作为暴露因素,求得OR=2.16(95%CI=1.206-3.870);两组人群在GLUT1-2841位点基因型和等位基因分布无统计学差异.结论:GLUT1基因+22999(G→T)多态性与夏尔巴人高原低氧适应存在相关性,G/T,T/T基因型可能对低氧适应有利,具体机制值得进一步探讨.
Abstract
AIM: To investigate the association of single nucleo-tide polymorphisms (SNPs) of glucose transport 1 (GLUT1) gene with hypoxia adaptation in high altitude in Sherpas. METHODS: The SNPs of + 22999 (G→T) and -2841 (A→T) of GLUT1 gene were examined by restriction fragment length polymorphism poly-merase chain reaction (RFLP-PCR) in 104 Sherpas and 90 Han nationality healthy subjects. RESULTS: The genotype frequency of GLUT1 gene +22999 (G→T) in Sherpas and Han nationality was 48. 0% versus 66. 7% in G/Ggenotype, 41. 3% versus 31.1% in G/T genotype and 10.7% versus 2.2% in T/T genotype, with significant difference between the two groups ( P = 0.009). At +22999, mutant genotype(G/T + T/T) as exposure, the total frequency of G/T + T/T in Sherpas was higher than that in Han nationality and the OR mutant genotype versus wild was 2.16 (95% CI = 1.206-3.870). No significant difference was observed in genotype and allele frequency of -2841 ( A→ T) between the two groups (P >0.05). CONCLUSION: Polymorphisms of GLUT1 gene +22999 (G→T) are associated with hypoxia adaptation in high altitude in Sherpas. G/T and T/T genotype may be beneficial to hypoxia adaptation and further study is needed for its mechanism.
关键词
葡萄糖转运蛋白1/多态性/单核苷酸/高海拔/缺氧/聚合酶链反应/多态性/限制性片段长度Key words
GLUT 1/polymorphism/single nucleotide/altitude/anuxia/polymerase chain reaction/polymorphism/restriction fragment length引用本文复制引用
出版年
2009
NETL
NSTL
维普
万方数据