Association between diversity of hypoxia at different altitude and the polymorphism of EPAS1 gene / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 583-588, 2011.
Article
in Chinese
| WPRIM
| ID: wpr-326885
ABSTRACT
<p><b>OBJECTIVE</b>To study the selection effect of endothelial PAS domain protein 1 (EPAS1) gene induced by high altitude hypoxia environment.</p><p><b>METHODS</b>Fourteen single nucleotide polymorphism sites (SNPs) of the EPAS1 gene were genotyped using PCR-restriction fragment length polymorphism (PCR-RFLP) in three Tibetan groups (58 samples from Tibetan living in an altitude of about 3700 meters above sea level, 47 from Qinghai province, about 3100 meters above sea level, 43 from Yunnan province, about 2500 meters above sea level), and Han of Shandong (47 samples, about 50 meters above sea level).</p><p><b>RESULTS</b>There were significant differences of most SNP allelic, genotypic and haplotypic frequencies when comparing Han of Shandong, Tibetan of Yunnan with Tibetan of Tibetan and Qinghai. But no difference between Han of Shandong and Tibetan of Yunnan was found.</p><p><b>CONCLUSION</b>The EPAS1 gene might be under hypoxic selection induced by high altitude.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Haplotypes
/
Linkage Disequilibrium
/
China
/
Polymorphism, Single Nucleotide
/
Alleles
/
Basic Helix-Loop-Helix Transcription Factors
/
Altitude Sickness
/
Gene Frequency
/
Genetics
/
Hypoxia
Limits:
Humans
Country/Region as subject:
Asia
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2011
Type:
Article
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