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1.
Genet Mol Res ; 9(3): 1443-9, 2010 Jul 27.
Artigo em Inglês | MEDLINE | ID: mdl-20677133

RESUMO

We investigated the ABO genotypes and heterogeneity of the O alleles in Plasmodium falciparum-infected and non-infected individuals from the Brazilian Amazon region. Sample collection took place from May 2003 to August 2005, from P. falciparum malaria patients from four endemic regions of the Brazilian Amazon. The control group consisted of donors from four blood banks in the same areas. DNA was extracted using the Easy-DNA(TM) extraction kit. ABO genotyping was performed using PCR/RFLP. There was a high frequency of ABO*O01O01. ABO*AO01 was the second most frequent genotype, and the third most frequent genotype was ABO*BO01. There were low frequencies of the ABO*O01O02, ABO*AA, ABO*AB, ABO*BB, and ABO*O02O02 genotypes. We analyzed the alleles of the O phenotype; the O(1variant) allele was the most frequent, both in malaria and non-malaria groups; consequently, the homozygous genotype O(1)(v)O(1)(v) was the most frequently observed. There was no evidence of the homozygous O(2) allele. Significant differences were not detected in the frequency of individuals with the various alleles in the comparison of the malaria patients and the general population (blood donors).


Assuntos
Sistema ABO de Grupos Sanguíneos/genética , Doadores de Sangue , Malária Falciparum/genética , Polimorfismo Genético/genética , Adolescente , Adulto , Idoso , Brasil , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase , Polimorfismo de Fragmento de Restrição/genética , Adulto Jovem
2.
Genet Mol Res ; 8(1): 354-63, 2009 Mar 31.
Artigo em Inglês | MEDLINE | ID: mdl-19440971

RESUMO

Hemoglobinopathies were included in the Brazilian Neonatal Screening Program on June 6, 2001. Automated high-performance liquid chromatography (HPLC) was indicated as one of the diagnostic methods. The amount of information generated by these systems is immense, and the behavior of groups cannot always be observed in individual analyses. Three-dimensional (3-D) visualization techniques can be applied to extract this information, for extracting patterns, trends or relations from the results stored in databases. We applied the 3-D visualization tool to analyze patterns in the results of hemoglobinopathy based on neonatal diagnosis by HPLC. The laboratory results of 2520 newborn analyses carried out in 2001 and 2002 were used. The "Fast", "F1", "F" and "A" peaks, which were detected by the analytical system, were chosen as attributes for mapping. To establish a behavior pattern, the results were classified into groups according to hemoglobin phenotype: normal (N = 2169), variant (N = 73) and thalassemia (N = 279). 3-D visualization was made with the FastMap DB tool; there were two distribution patterns in the normal group, due to variation in the amplitude of the values obtained by HPLC for the F1 window. It allowed separation of the samples with normal Hb from those with alpha thalassemia, based on a significant difference (p < 0.05) between the mean values of the "Fast" and "A" peaks, demonstrating the need for better evaluation of chromatograms; this method could be used to help diagnose alpha thalassemia in newborns.


Assuntos
Cromatografia Líquida de Alta Pressão/métodos , Hemoglobinopatias/diagnóstico , Hemoglobinas/química , Imageamento Tridimensional/métodos , Fenótipo , Hemoglobinopatias/genética , Hemoglobinopatias/metabolismo , Hemoglobinas/genética , Humanos , Recém-Nascido , Triagem Neonatal , Software , Talassemia alfa/diagnóstico , Talassemia alfa/genética
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