ABSTRACT
Aims: Cancer is a genetic disease characterized by an unbalance between cell growth and regulatory factors. The gene XRCC3 encodes a protein that contributes to the integrity of the genome and XRCC3 Thr241Met variants have their capacity of repair altered. Study Design: Our goal was to evaluate XRCC3 241Met polymorphism in a sample of cancer patients in the city of Macapá. Place and Duration of Study: Laboratory of Molecular Biology (Biological Sciences Program of the Federal University of Amapá), Dr. Alberto Lima Clinical Hospital (Hcal) and Institute of Hematology and Hemotherapy of Amapá between June 2009 and July 2010. Methodology: We analyzed 100 DNA samples of patients (50 cases diagnosed with cancer and 50 controls). DNA samples were amplified and analyzed by PCR-RFLP with the enzyme NLaIII. Results: The molecular analysis revealed that 58% of cases and 12% of controls had the Thr/Met genotype, while 82% of controls and 36% of cases had the Thr/Thr genotype. Conclusion: Non-invasive independent predictors for screening esophageal varices may decrease medical as well as financial burden, hence improving the management of cirrhotic patients. These predictors, however, need further work to validate reliability. The frequency of the Thr/Met genotype was higher among cancer patients when compared to the control group. Our findings suggest that XRCC3 241Met polymorphism may be associated with the risk cancer in the study population.
ABSTRACT
Introduction:Sickle cell disease (SCD) is a hereditary, hematologic, multifactorial disease, with high prevalence worldwide; its cause is a mutation in the sixth codon of the beta globin gene (βs).Objective: To identify the haplotypes present in people with SCD in Amapá, and relate them to African descent. Methods: We analyzed, by molecular techniques, 46 blood samples from people with SCD in Macapá, the capital of Amapá, with the purpose of obtaining information about haplotype frequency distribution, which helps understand the ethnic background of Amapá's population. Results: Our study revealed that the most frequent haplotype is Bantu (61.2%), followed by Benin (26.6%) and Senegal (12.2%). Results showed statistical differences from studies conducted in other regions. A high frequency of the Senegal haplotype stands out, in comparison with some Brazilian studies. Conclusion: Amapá's results exhibit unique characteristics when compared to haplotypes in other regions, with high frequency of Senegal and Benin haplotypes, absence of atypical, Cameroon and Saudi, confirming that Brazil shows ethnic background diversity, as well as different haplotype frequencies...
Introdução: A doença falciforme é uma doença hereditária, hematológica, de caráter multifatorial, com alta prevalência mundial; sua causa é a mutação no sexto códon do gene da globina beta (βs). Objetivo:Identificar os haplótipos presentes em indivíduos com doença falciforme no Amapá e relacioná-los com a origem afrodescendente. Método: Foram analisadas por meio de técnicas moleculares 46 amostras de sangue de indivíduos com doença falciforme de Macapá, capital do Amapá, com a finalidade de fornecer informações sobre a distribuição das frequências dos haplótipos, contribuindo para o entendimento da formação étnica da população amapaense. Resultados: Nosso estudo revelou que o mais frequente é o haplótipo Bantu (61,2%), seguido de Benin (26,6%) e Senegal (12,2%). Nossos resultados apresentaram diferenças estatísticas em relação a estudos realizados em outras regiões, destacando-se que o presente estudo mostra uma frequência elevada do haplótipo Senegal quando comparado com alguns estudos brasileiros. Conclusão: Os resultados amapaenses apresentam características únicas quando relacionados com os haplótipos de outras regiões, com alta frequência de Senegal e Benin, ausência de atípicos, Camarões e Saudi, confirmando que o Brasil apresenta diversidade de origens étnicas, bem como diferentes frequências de haplótipos...