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Study of nine single nucleotide polymorphism loci of human HIF1A gene in three Tibetan groups / 中华医学遗传学杂志
Chinese Journal of Medical Genetics ; (6): 584-589, 2010.
Artigo em Chinês | WPRIM | ID: wpr-234355
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the effect of hypoxia environment induced by altitude on hypoxia inducible factor 1α (HIF1A) gene.</p><p><b>METHODS</b>Nine 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.</p><p><b>RESULTS</b>For 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.</p><p><b>CONCLUSION</b>The results suggested that the HIF1A gene might be under hypoxic selection induced by high altitude in the three groups.</p>
Assuntos
Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Tibet / Polimorfismo de Nucleotídeo Único / Alelos / Subunidade alfa do Fator 1 Induzível por Hipóxia / Etnologia / Altitude / Genética / Genótipo / Hipóxia Limite: Humanos País/Região como assunto: Ásia Idioma: Chinês Revista: Chinese Journal of Medical Genetics Ano de publicação: 2010 Tipo de documento: Artigo

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Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Tibet / Polimorfismo de Nucleotídeo Único / Alelos / Subunidade alfa do Fator 1 Induzível por Hipóxia / Etnologia / Altitude / Genética / Genótipo / Hipóxia Limite: Humanos País/Região como assunto: Ásia Idioma: Chinês Revista: Chinese Journal of Medical Genetics Ano de publicação: 2010 Tipo de documento: Artigo