Study of nine single nucleotide polymorphism loci of human HIF1A gene in three Tibetan groups.
- Author:
Jin-kun KE
1
;
Yu-feng YAO
;
Lei SHI
;
Liang YU
;
Ke-qin LIN
;
Yu-fen TAO
;
Li SHI
;
Wen YI
;
Xiao-qin HUANG
;
Hao SUN
;
Jia-you CHU
Author Information
- Publication Type:Journal Article
- MeSH: Alleles; Altitude; Genotype; Humans; Hypoxia; ethnology; genetics; Hypoxia-Inducible Factor 1, alpha Subunit; genetics; Polymorphism, Single Nucleotide; Tibet; ethnology
- From: Chinese Journal of Medical Genetics 2010;27(5):584-589
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate the effect of hypoxia environment induced by altitude on hypoxia inducible factor 1α (HIF1A) gene.
METHODSNine single nucleotide polymorphism (SNP) loci of the HIF1A gene from three Tibetan groups (Tibet, Qinghai Province and Yunnan Province) were genotyped using PCR-restriction fragment length polymorphism (PCR-RFLP) method.
RESULTSFor non-synonymous mutation SNP site, there was no significant difference among the three Tibetan groups, except for SNP rs11549465 between Tibet Tibetan and Yunnan Tibetan, as well as between Qinghai Tibetan and Yunnan Tibetan. Frequencies of genotypes and alleles in rs4899056, rs1957757, rs10873142 and rs3783752 had significant differences between Tibet Tibetan and Yunnan Tibetan, and between Qinghai Tibetan and Yunnan Tibetan (all P<0.05). We also observed that the difference was negatively correlated with the altitude.
CONCLUSIONThe results suggested that the HIF1A gene might be under hypoxic selection induced by high altitude in the three groups.
