| 摘要: |
| ［摘要］ 面临高原低氧环境带来的严峻挑战，高原人群有适应和不适应高原两类不同的表现。表现为不适应高原的群体，会受到红细胞增多带来的负面影响。随着适应不良时间的增加，这一群体最终可能罹患慢性高原病。为了揭示适应和慢性高原病在不同人群存在差异的原因，目前研究者们运用基因组学技术和遗传统计学方法发现一些重要的遗传分子，如基因EPAS1和SENP1以及相关的单倍型和SNPs等。虽然这些遗传分子暂时缺少足够的功能验证结果，但这些发现为理解慢性高原病的病理分子机制提供了重要的参考信息。 |
| 关键词: 慢性高原病 遗传分子 高原人群 高原适应 |
| DOI：10.3969/j.issn.1674-3806.2020.11.23 |
| 分类号:R 594 |
| 基金项目:国家自然科学基金项目（编号：81860329，31660307）；西藏自治区科技计划项目（编号：XZ201801-GB-03）；西藏自治区自然科学基金项目［编号：XZ2019ZRG-32(Z)，XZ2019ZRG-132］ |
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| Research progress in related molecular mechanism of chronic mountain sickness in high altitude populations |
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ZHANG Han, ZHANG Zhi-ying, LIU Li-jun, et al.
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Key Laboratory for Molecular Genetic Mechanisms and Intervention Research on High Altitude Disease of Tibet Autonomous Region, Key Laboratory of High Altitude Environment and Genes Related to Disease of Tibet Autonomous Region, Xizang Minzu University, Shanxi 712082, China
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| Abstract: |
| ［Abstract］ Faced with the severe challenges brought about by the low-oxygen environment of a plateau, high altitude populations may have two different manifestations: adaptation and non-adaptation. Among them, those who do not adapt to the plateau will be negatively affected by erythrocytosis, and this group of people may eventually suffer from chronic mountain sickness(CMS) when the time of maladaptation increases. To uncover the reasons for the differences in adaptation and CMS among different populations, researchers have now used genomics techniques and genetic statistics to identify some important genetic molecules, such as genes endothelial PAS domain protein 1(EPAS1) and SUMO-specific protease 1(SENP1), as well as related haplotypes and single-nucleotide polymorphisms(SNPs). Although these genetic molecules do not have sufficient functional verification results for the time being, these findings provide important reference information for understanding the pathological molecular mechanism of CMS. |
| Key words: Chronic mountain sickness(CMS) Genetic molecules High altitude populations Altitude adaptation |
