ABSTRACT. Chronic myeloid leukemia is a hematopoietic stem cell disorder that causes uncontrolled proliferation of white blood cells. Although the clinical and biological aspects are well documented, little is known about individual susceptibility to this disease. We conducted a case-control study analyzing the prevalence of the polymorphisms MTHFR C677T, MTHFR A1298C, del{GSTM1}, del{GSTT1}, and haptoglobin in 105 patients with chronic myeloid leukemia (CML) and 273 healthy controls, using PCR-based methods. A significant association with risk of developing CML was found for MTHFR 1298AA (odds ratio (OR) = 1.794; 95% confidence interval (CI) = 1.14-2.83) and GSTM1 non-null (OR = 1.649; 95%CI = 1.05-2.6) genotypes, while MTHFR 1298AC (OR = 0.630; 95%CI = 0.40-G.S. Lordelo et al. 1014©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 11 (2): 1013-1026 (2012) 0.99) and GSTM1 null (OR = 0.606; 95%CI = 0.21-0.77) genotypes significantly decreased this risk. There appeared to be selection for heterozygosity at the MTHFR 1298 locus. The considerable range of variation in this and other human populations may be a consequence of distinctive processes of natural selection and adaptation to variable environmental conditions. The Brazilian population is very mixed and heterogeneous; we found these two loci to be associated with CML in this population.
-Aedes aegypti (L.) is an important vector of diseases such as the yellow fever and dengue, present in tropical and subtropical regions. The objective of this study was to analyze the genetic variability of different A. aegypti populations using RAPD (Random Amplified Polymorphic DNA) markers as a basic study to support the use of biocontrol strategies. DNA of ten collected larvae from three different populations were analyzed using ten RAPD primers. The results indicated the existence of genetic variability inter and intrapopulation. This was confirmed by a dendrogram that grouped the populations in two main clusters with a genetic similarity of 24%. In one of these clusters, it was possible to distinguish two populations that showed 50% similarity. The molecular variance analysis indicated that the interpopulation genetic diversity (55,01%) was higher than the intrapopulation genetic diversity (44,99%). A high genetic polymorphism (H t = 0.2656) and high levels of genetic differentiation between populations (G st = 0.3689) were found. The adopted DNA extraction protocol proved to be efficient regardless the insect development stage used, avoiding the addition of reagents or additional stages of processing. Future experiments can be performed to confirm if the detected variability is related to the resistance characteristics of each population to a determined pesticide.KEY WORDS: Dengue vector, population genetic, resistance RESUMO -Aedes aegypti (L.) é vetor de importantes doenças como a febre amarela e a dengue, presentes em regiões tropicais e subtropicais. Para o sucesso no seu controle biológico é importante conhecer a estrutura genética e os mecanismos que resultaram na diversidade das populações. O objetivo deste estudo foi analisar a variabilidade genética de diferentes populações de A. aegypti utilizando marcadores de RAPD (Polimorfismo de DNA amplificado ao acaso). DNA de dez larvas coletadas a partir de três populações de diferentes localidades foi analisado usando dez iniciadores de RAPD. Os resultados indicaram a existência de variabilidade genética inter e intrapopulacional. Isso foi confirmado por um dendrograma que agrupou as populações em dois blocos principais com similaridade genética de 24%. Em um desses agrupamentos foi possível distinguir duas populações que apresentaram grau de similaridade de 50%. A diversidade genética entre as populações (55,01%) foi mais elevada que a diversidade genética dentro das populações (44,99%) aplicando-se análise por AMOVA. Altos níveis de polimorfismo genético (H t = 0.2656) e de diferenciação genética entre as populações (G st = 0.3689) foram observados. Além disso, o protocolo de extração de DNA adotado mostrou-se eficiente para a análise do inseto independente do seu estágio de desenvolvimento, evitando-se o acréscimo de reagentes ou etapas adicionais de processamento. Futuros experimentos poderão ser realizados para confirmar se a variabilidade observada pode estar ligada às características de resistência de cada população a um determinado pest...
The Bemisia tabaci complex is formed by approximately 41 biotypes, two of which (B and BR) occur in Brazil. In this work we aimed at obtaining genetic markers to assess the genetic diversity of the different biotypes. In order to do that we analyzed Bemisia tabaci biotypes B, BR, Q and Cassava using molecular techniques including RAPD, PCR-RFLP and sequencing of the ITS1 rDNA region. The analyses revealed a high similarity between the individuals of the B and Q biotypes, which could be distinguished from the BR individuals. A phylogenetic tree based on ITS1 rDNA sequence was constructed. This is the first report of the ITS1 rDNA sequence of Bemisia tuberculata and of the BR biotype of B. tabaci.
Haptoglobin is a plasma hemoglobin-binding protein that limits iron loss during normal erythrocyte turnover and hemolysis, thereby preventing oxidative damage mediated by iron excess in the circulation. Haptoglobin polymorphism in humans, characterized by the Hp*1 and Hp *2 alleles, results in distinct phenotypes known as Hp1-1, Hp2-1 and Hp2-2, whose frequencies vary according to the ethnic origin of the population. The Hp*1 allele has two subtypes, Hp *1F and Hp *1S , that also vary in their frequencies among populations worldwide. In this work, we examined the distribution frequencies of haptoglobin subtypes in three Brazilian population groups of different ethnicities. The haptoglobin genotypes of Kayabi Amerindians (n = 56), Kalunga Afro-descendants (n = 70) and an urban population (n = 132) were determined by allele-specific PCR. The Hp*1F allele frequency was highest in Kalunga (29.3%) and lowest in Kayabi (2.6%). The Hp*1F/Hp*1S allele frequency ratios were 0.6, 1.0 and 0.26 for the Kayabi, Kalunga and urban populations, respectively. This variation was attributable largely to the Hp*1F allele. However, despite the large variation in Hp*1F frequencies, results of F ST (0.0291) indicated slight genetic differentiation among subpopulations of the general Brazilian population studied here. This is the first Brazilian report of variations in the Hp*1F and Hp*1S frequencies among non-Amerindian Brazilians.
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