[Association between polymorphisms of HIF-1alpha C1772T and G1790A and hypoxic acclimation in high altitude in Tibetans]

Abstract

In this study the blood sample was collected from eighty-six athletes in Tibetan mountaining team and Tibetan mountaining sports school and ninety healthy Han nationality people in Guangdong province, and genomic DNA was extracted from peripheral leukocyte. The allele frequency distribution and the genotypes combination distribution of hypoxia-inducible factor-la gene (HIF-1alpha)exonl2 C1772T and G1790A were examined by restriction fragment length polymorphism PCR (PCR-RFLP) in order to evaluate the association of single nucleotide polymorphisms (SNPs) of HIF-1alpha C1772T and G1790A with hypoxic acclimation in high altitude in Tibetans. The results indicated that the genotype frequency of HIF-1alpha C1772T in Tibetan and in Han nationality was 13.95% versus 16.67% in genotype CC, 38.37% versus 41.11% in genotype CT and 47.68% versus 42.22% in genotype TT. No significant difference in CC, CT and TT genotype frequency of HIF-1alphaC1772T was shown between Tibetans and Han nationality respectively, while GA genotype frequency of HIF-la G1790A in Tibetans was higher than that in Han nationality. The GA genotype of HIF-1alpha G1790A may be involved in the hypoxic acclimation of high altitude , and it is worth of deep-going investigation.