hemoglobinas humanas: hipótese malária ou efeito materno? human hemoglobins: malaria hypothesis or maternal effect?

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ID: 235681
2005
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Ranked #49 of 100 articles by views in journal of computational and graphical statistics : a joint publication of american statistical association, institute of mathematical statistics, interface foundation of north america

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Abstract
As hemoglobinopatias têm provido uma das poucas demonstrações convincentes da seleção, influenciando a freqüência de único gene na população humana. A alta taxa de desordens, tais como a anemia falciforme e a beta-talassemia, ocorridas em áreas subtropicais ou tropicais dentro do cinturão da malária, levou Haldane a propor que a malária pode ser o agente seletivo responsável que balanceia a perda dos genes para a talassemia e a anemia falciforme, por morte prematura dos homozigotos a partir do aumento do valor adaptativo de heterozigotos no ambiente com malária. Mas uma nova proposta surgiu para explicar a manutenção deste polimorfismo, baseada na fertilidade diferencial ou efeito parental. Alguns autores observaram uma distorção favorecendo a transmissão de alelos mutantes em áreas não endêmicas de malária. Com base nestas observações, esses autores propuseram um efeito materno para explicar tais distorções. Este estudo tem como objetivo apresentar uma revisão destes mecanismos envolvidos na manutenção do polimorfismo de hemoglobinopatias, desde seu modelo clássico até hipóteses alternativas que surgiram recentemente na literatura.
Hemoglobinopathies are providing one of the few convincing demonstrations of selection, influencing the frequency of a single gene in the human population. The high rate of disorders, such as the sickle cell anemia and beta-thalassemia that occur in the subtropical or tropical regions within the strip affected by malaria, led Haldane to propose that malaria may be the selective agent responsible for balancing the loss of thalassemia and sickle cell anemia genes due to the early death of homozygous patients. But a new proposal appeared to explain the maintenance of these polymorphisms, based on the differential fertility or parental effect. Some authors observed a distortion favoring the transmission of mutant alleles in non-endemic malaria areas. Based on these observations, the authors proposed a maternal effect to explain these distortions. This study aims at presenting a review of the mechanisms involved in the maintenance of polymorphisms of hemoglobinopathies, both from the classic model and the recently published alternative hypotheses.
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torres2005revistahemoglobinas Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors ;Felipe R. Torres;Claudia R. Bonini-Domingos
Journal journal of computational and graphical statistics : a joint publication of american statistical association, institute of mathematical statistics, interface foundation of north america
Year 2005
DOI
10.1590/S1516-84842005000100013
URL
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-84842005000100013
Keywords
malaria genetic polymorphism

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