近年来对血红蛋白遗传疾病的群体遗传学和动态的深入了解。
Recent insights into the population genetics and dynamics of the inherited disorders of hemoglobin.
机构信息
Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, UK.
出版信息
Mediterr J Hematol Infect Dis. 2009 Dec 20;1(1):e200922. doi: 10.4084/MJHID.2009.022.
The inherited disorders of hemoglobin are by far the commonest monogenic diseases and there is considerable evidence that they have reached their very high frequencies due to heterozygote advantage against malaria. Recent studies have begun to clarify the effect of interactions between malaria and some of the more severe inherited hemoglobin disorders and demonstrated how complex epistatic interactions between different hemoglobin variants with respect to malaria resistance and modification of their phenotypic severity may explain the remarkable heterogeneity of distribution and the frequency of these conditions both between and within individual populations.
遗传性血红蛋白疾病是迄今为止最常见的单基因疾病，有相当多的证据表明，由于杂合子对疟疾具有优势，这些疾病的频率已经非常高。最近的研究开始阐明疟疾与一些更严重的遗传性血红蛋白疾病之间的相互作用的影响，并展示了不同血红蛋白变体之间针对疟疾抗性和表型严重程度改变的复杂上位相互作用如何解释这些条件在个体人群之间和内部的分布和频率的显著异质性。
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