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哥伦比亚人群中普遍存在的人类红细胞多态性及其对疟疾的保护作用。

Human red blood cell polymorphisms prevalent in Colombian population and its protective role against malaria.

作者信息

Contreras N, Alvíz A

机构信息

University of Cartagena, Zaragocilla Campus, Cartagena, Colombia; Corporation Universitary Rafael Nuñez, Faculty of Medicine. Centro Clle de la Soledad, Cartagena, Colombia.

University of Cartagena, Zaragocilla Campus, Cartagena, Colombia.

出版信息

Transfus Clin Biol. 2019 Feb;26(1):60-68. doi: 10.1016/j.tracli.2018.08.001. Epub 2018 Aug 10.

Abstract

The populations infected with malaria have developed genetic defense mechanisms in order to protect themselves against the most serious complications of this disease. Those mechanisms have been associated from the perspective of co-adaptive process with some genetic diseases widely present in humans as sickle-cell disease, sickle cell trait and glucose-6-phosphate dehydrogenase deficiency (G6PD). Biochemically, polymorphic mutations at the erythrocyte level have been widely studied, however there is no clear statement of the mechanisms used for resistance against the causative agent of malaria. The purpose of this review is to introduce the molecular and biochemical basis of defense mechanisms associated with two of those adaptations: sickle-cell trait and Glucose-6-phosphate Dehydrogenase Deficiency (G6PD). The first one is a hemoglobinopathy while the second one is the most frequent enzymopathy present in humans.

摘要

感染疟疾的人群已经形成了基因防御机制,以保护自己免受这种疾病最严重并发症的侵害。从共同适应过程的角度来看,这些机制与人类中广泛存在的一些遗传性疾病有关,如镰状细胞病、镰状细胞性状和葡萄糖-6-磷酸脱氢酶缺乏症(G6PD)。在生物化学方面,红细胞水平的多态性突变已得到广泛研究,然而,对于抵抗疟疾病原体所使用的机制尚无明确阐述。本综述的目的是介绍与其中两种适应性相关的防御机制的分子和生化基础:镰状细胞性状和葡萄糖-6-磷酸脱氢酶缺乏症(G6PD)。前者是一种血红蛋白病,而后者是人类中最常见的酶病。

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