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Doctoral Thesis
DOI
10.11606/T.42.2008.tde-05122008-095833
Document
Author
Full name
Ricardo de Godoi Mattos Ferreira
Institute/School/College
Knowledge Area
Date of Defense
Published
São Paulo, 2008
Supervisor
Committee
Krieger, Henrique (President)
Camargo, Luís Marcelo Aranha
Cendes, Iscia Teresinha Lopes
Katzin, Alejandro Miguel
Otto, Paulo Alberto
Title in Portuguese
Genética epidemiológica de malária em Rondônia.
Keywords in Portuguese
Bioestatistica
Epidemiologia
Genética de populações
Malária
Polimorfismo
Abstract in Portuguese
O objetivo do trabalho foi de investigar os mecanismos genéticos relacionados à resposta humana à malária em duas populações Amazônicas. Cerca de 180 indivíduos de Portuchuelo e mais de 800 indivíduos de Monte Negro foram incluídos na amostra. Os indivíduos amostrados passaram por um levantamento epidemiológico e caracterização de marcadores genéticos. O número de episódios de malárias relatado pelos indivíduos, após correção para idade e sexo, foi submetido a testes de associação. A associação esperada entre indivíduos Fy- e a característica estudada foi encontrada nas duas populações, sem heterogeneidade significante. Análises de segregação complexa indicaram a presença de um gene principal relacionado ao acometimento de malária. Utilizando 108 STRs foi realizada uma varredura genômica na população de Portuchuelo onde foi encontrado um pico de lod score, sugestivo de ligação no braço curto do cromossomo 4. Os resultados obtidos em Portuchuelo não foram confirmados em 9 STRs estudados na população de Monte Negro.
Title in English
Genetic epidemiology of malaria infection at Rondônia.
Keywords in English
Biostatistics
Epidemiology
Malaria
Polymorfism
Population genetics
Abstract in English
With the aim of investigate the genetic mechanisms related to the human response to malaria infection, two Amazonian populations were studied. About 180 individuals from Portuchuelo population and more than 800 individuals from Monte Negro were included in the sample. Those individuals where subjected to an epidemiological survey, followed by characterization of genetic markers. Among the characteristics surveyed, the number of malaria episodes reported by the subjects was tested for association with classic blood groups markers after correction for age and sex. The expected association with Fy- individuals was observed in both populations, without significant heterogeneity. Complex segregation analyses indicated the presence of a major gene related to the number of malaria episodes. A genomic scan using STRs markers was conducted at the Portuchuelo sample. The multipoint linkage scan showed a lod score suggestive of linkage at the short arm of chromosome 4. The results found at Portuchuelo were not confirmed at the Monte Negro sample using 9 STRs.
 
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Publishing Date
2009-05-11
 
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