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Investigation of Mutations in Loco G6PD (Bmed, A+A376G, A-G202A) in two Locality of Porto Velho-RO.

by DOS SANTOS, JÉFFERSON CASTRO

Abstract (Summary)
G6PD (Xq28), glucolysis enzyme of the metabolic Warburg-Dickens, is responsible in keeping the level of reduced NADPH of the erythrocyte cells. The enzymatic deficiency of some variants affects about 400 million people in the worldwide. In Brazil, the frequency of mutants is around 1,6%; as in generality observed on neonatal "screening" in the Brazilian population. The loci of G6PD seemingly has involved in susceptibility/prevalence mechanisms the severe malaria. This association, although intensely studied, presents results contradictory and not conclusive. Rondônia presents a high index of the malaria, vivax and falciparum, with several franus of clinical phenotype of the malaria, and some decurrent problems in the treatment, over all of the malaria falciparum. The principal object of this study was to determine the allele frequencies of G6PD (B, A+, A- BMed), in order the association between phenotype of malaria falciparum, with emphasis in asymptomatic phenotype (infection and clinical expression) and phenotype of G6PD (normal and deficient phenotype). Whole blood was collected (5ml), for DNA extraction, according to Higuchi (1989), of 303 individuals, of which 190 of there were men, and 164 women. The region of the urban collection possess marginal characteristics (Villages of Candelária and Bate Estaca) in Porto Velho -RO. Most of are remainders of the families who had established Porto Velho, in the seining of 20 Th century. The sample was divided in two sub sample: 115 individuals without kinships and 188 individuals with kinship, to prevent bias in the statistical analysis of association (in 5% level). The variants had been characterized by PCR, according to Mombo (2003), using gDNA, confirming it amplification on 1,5% agarose gel. After that, the PCR was submitted the digestion with restriction FoK I, Nla III and Mbo II, enzyme with confirmation in PAGE 10%. The gels had been visualization with AgNO3 20%. In the mean sample, without kindred (51 individuals) the observed phenotypes had been: B (80%), A+ (16%), (4%); with kindred (139 individuals): B (80%), A+ (15%) and (5%). Of 164 women, 64 without kinship: the observed genotypes had been: BB (80%), BA+ (6,0%), BA- (6,0%), A+A+ (6,0%), A-A- (2%); with kinship (164): BB (85%), BA+ (7%), BA- (3%), A+A+ (4%) and A-A- (1%). In our work it was not observed statistically, significant association of the phenotypes observed with the susceptibility/prevalence for asymptomatic malaria for P. falciparum, having a significant ratio of genotypes G6PD heterozygous.
This document abstract is also available in Portuguese.
Bibliographical Information:

Advisor:Vera Engracia Gama de Oliveira

School:Fundação Universidade Federal de Rondônia

School Location:Brazil

Source Type:Master's Thesis

Keywords:Genetics Variants

ISBN:

Date of Publication:12/01/2005

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