ABSTRACT
This investigation was conducted to explore the relationship between the polymorphism of gene of glucose transport 1(GLUT1) and the human body adaptation to high altitude hypoxia environment. The data on glucose transport 1 gene polymorphism in Tibetan mountaineers (high altitude group) were analyzed and compared with the data from the level-land Guangdong Hans (control group). The genotype of 86 Tibetan mountaineers and 90 level-land Hans as controls were tested with polymerase chain reaction followed by restriction fragment length polymorphism analysis for GLUT1 gene. The results showed that, in the high altitude mountaineer group, the frequencies of +22999 locus genotypes GG, GT and TT were 44.2%, 46.5% and 9.3% respectively, and such frequencies in the control group were 66.7%, 31.1% and 2.2% respectively. The frequencies of + 22999 polymorphic genotypes and alleles showed statistically significant difference between the high altitude group and the control group (P<0.05). Genetic single nucleotide polymorphism in GLUT1 G+22999T may be associated with the adaptation to high altitude hypoxia.
Subject(s)
Adolescent , Adult , Female , Humans , Male , Middle Aged , Young Adult , Adaptation, Physiological , Genetics , Alleles , Altitude , Base Sequence , Genotype , Glucose Transporter Type 1 , Genetics , Hypoxia , Genetics , Molecular Sequence Data , Polymerase Chain Reaction , Methods , Polymorphism, Restriction Fragment Length , TibetABSTRACT
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.
Subject(s)
Adolescent , Adult , Aged , Female , Humans , Male , Middle Aged , Young Adult , Adaptation, Physiological , Genetics , Physiology , Altitude , Base Sequence , Hypoxia , Genetics , Hypoxia-Inducible Factor 1, alpha Subunit , Genetics , Linkage Disequilibrium , Molecular Sequence Data , Polymerase Chain Reaction , Polymorphism, Restriction Fragment Length , Polymorphism, Single Nucleotide , Genetics , TibetABSTRACT
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.