Fitness and Function of Oxygen Saturation Genotypes in Tibet

西藏氧饱和度基因型的适应性和功能

• 批准号: 9706980
• 负责人: Cynthia Beall
• 金额: $ 27.02万
• 依托单位: Case Western Reserve University
• 依托单位国家: 美国
• 项目类别: Continuing Grant
• 财政年份: 1997
• 资助国家: 美国
• 起止时间: 1997-08-01 至 2003-07-31
• 项目状态: 已结题
• 来源: https://www.nsf.gov/awardsearch/showAward?AWD_ID=9706980&HistoricalAwards=false
• 关键词: Fitness; Function; Oxygen; Saturation; Genotypes

Human populations inhabit a broad range of environments. Certainly one of the most challenging of these environments is the high altitude region of the world's highest mountain ranges. It has been of considerable scientific interest to determine if populations long residing at these high altitudes have accommodated the stress of reduced oxygen pressure biologically during their sojourn in these regions. While many previous studies have evaluated the biological variation and adaptation of populations living at high altitude, the question of whether these groups are characterizied by genetic adaptations to the stresses of altitude has proven difficult to resolve. Recent research indicates that among the Tibetan population of the Autonomous Region of China residing in villages above 4,000m, a single major gene may act to enhance oxygen saturation of arterial hemoglobin in carriers. Moreover, preliminary data also suggest that individuals possessing this gene not only exhibit greater oxygen saturation of blood, but are characterized by greater reproductive fitness. This research project is aimed at testing the hypothesis that Tibetan women from high altitude populations who possess at least one copy of the putative high oxygen saturation gene also exhibit higher reproductive rates than those who do not. The project will also test the hypothesis of better adaptive integration of oxygen transport, immune and endocrine system function in Tibetan populations living at different high altitude elevations. This research expands the focus on oxygen transport at high altitude to measure the consequences of genetically influenced variation in physiological response to lowered oxygen pressure in terms of demographic and biological outcomes. It will provide the first detailed profile of the immune, endocrine, and cardiorespiratory systems and their integration from adolescence through old age among people living under hypoxic stress. The proposed research also broadens the study of human genetic adaptation by using formal analytic models for quantitative adaptive traits. The application of statistical genetic analytical techniques analyzes a hypothetically adaptive trait by decomposing its underlying genetic determinants and formally testing its association with fitness and function.

人类居住在广泛的环境中。 当然，这些环境中最具挑战性的一个是世界上最高山脉的高海拔地区。确定长期居住在这些高海拔地区的人群在这些地区逗留期间是否在生物学上适应了氧气压力降低的压力，这具有相当大的科学意义。 虽然许多先前的研究已经评估了生活在高海拔地区的人群的生物学变异和适应性，但这些群体是否具有对海拔压力的遗传适应性的问题已经证明很难解决。 最近的研究表明，在中国西藏自治区居住在海拔4,000米以上的村庄的藏族人口中，一个单一的主基因可能会提高携带者动脉血红蛋白的氧饱和度。 此外，初步数据还表明，拥有这种基因的个体不仅表现出更高的血氧饱和度，而且具有更高的生殖适应性。该研究项目旨在验证一个假设，即来自高海拔地区的藏族妇女，如果拥有至少一个假定的高氧饱和度基因拷贝，也会比那些没有的人表现出更高的生殖率。 该项目还将测试生活在不同高海拔地区的藏族人群中氧气运输，免疫和内分泌系统功能更好的适应性整合的假设。 这项研究扩大了对高海拔氧气运输的关注，以测量在人口统计学和生物学结果方面对降低氧气压力的生理反应中受遗传影响的变化的后果。 它将提供第一个详细的概况免疫，内分泌和心肺系统和他们的整合从青春期到老年人生活在缺氧压力。 该研究还拓宽了人类遗传适应的研究，通过使用正式的分析模型的数量适应性状。 统计遗传分析技术的应用分析了一个假设的适应性特征，通过分解其潜在的遗传决定因素，并正式测试其与健身和功能。