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.
Artigo
em Chinês
| WPRIM (Pacífico Ocidental)
| ID: wpr-326885
Biblioteca responsável:
WPRO
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>
Texto completo:
Disponível
Base de dados:
WPRIM (Pacífico Ocidental)
Assunto principal:
Haplótipos
/
Desequilíbrio de Ligação
/
China
/
Polimorfismo de Nucleotídeo Único
/
Alelos
/
Fatores de Transcrição Hélice-Alça-Hélice Básicos
/
Doença da Altitude
/
Frequência do Gene
/
Genética
/
Hipóxia
Limite:
Humanos
País/Região como assunto:
Ásia
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2011
Tipo de documento:
Artigo