Association of polymorphisms of 1772 (C→T) and 1790 (G→A) in HIF1A gene with hypoxia adaptation in high altitude in Sherpas

Chinese Journal of Medical Genetics

Volumn 24, Issue 2, 2007, Pages 230-232

  Liu, Kun Xiang ^a   Sun, Xue Chuan ^b   Wang, Sheng Wei ^a   Hu, Bin ^c  

^a SICHUAN UNIVERSITY   (China)

^b PLA Institute of Physical Education   (China)

^c SUN YAT SEN UNIVERSITY   (China)

Author keywords

High altitude hypoxia adaptation; Hypoxia inducible factor 1 alpha subunit; Polymerase chain reaction restriction fragment length polymorphism; Single nucleotide polymorphisms

Indexed keywords

GENOMIC DNA; HYPOXIA INDUCIBLE FACTOR 1ALPHA;

ALTITUDE ACCLIMATIZATION; ALTITUDE DISEASE; ARTICLE; BLOOD SAMPLING; CHINA; GENE FREQUENCY; GENETIC POLYMORPHISM; GENOTYPE; HUMAN; HUMAN EXPERIMENT; POLYMERASE CHAIN REACTION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SINGLE NUCLEOTIDE POLYMORPHISM;

ADAPTATION, PHYSIOLOGICAL; ALTITUDE; ANOXIA; GENE FREQUENCY; GENOTYPE; HUMANS; HYPOXIA-INDUCIBLE FACTOR 1; LINKAGE DISEQUILIBRIUM; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; POLYMORPHISM, SINGLE NUCLEOTIDE; TIBET;

EID: 34247211079     PISSN: 10039406     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (7)

1. Mullikin JC, Hunt SE, Cole CG, et al. An SNP map of human chromosome 22. Nature, 2000, 407:516-520.
2. Tanimoto K, Yoshiga K, Eguchi H, et al. Hypoxia-inducible factor-1αpolymorphisms associated with enhanced transactivation capacity, implying clinical significance. Carcinogenesis, 2003,24:1779-1783.
3. Ollerenshow M, Page T, Hammonds J, et al. Polymorphisms in the hypoxia inducible factor-1α gene (HIF1A) are associated with the renal cell carcinoma phenotype. Cancer Genet Cytogenet, 2004,153:122-126.
4. Suzuki K, Kizaki T, Hitomi Y, et al. Genetic variation in hypoxia-inducible factor 1 and its possible association with high altitude adaptation in Sherpas. Med Hypoth, 2003, 61:385-389.
5. Percy MJ, Mooney SM, Mcmullin MF, et al. A common polymorphism in the oxygen- dependent degradation domain (ODD) of hypoxia inducible factor-1α(HIF-1α) does not impair Pro-564 hydroxylation. Molecular Cancer, 2003,2:31-37.
6. Li D, Hirsila M, Koivunen P, et al. Many amino acid substitutions in a hypoxia-inducible transcription factor (HTF)-1α-like peptide cause only minor changes in its hydroxylation by the HIF proly 4-hydroxylases. J Biologi Chem, 2004, 279:55051-55059.
7. Fu XS, Choi E, Bubley GJ, et al. Identification of hypoxia-inducible factor-1α (HIF-1α) polymorphism as a mutation in prostate cancer that prevents normoxia-induced degradation. Prostate, 2005,63:215-221.