Brazilian population

Association between methylene tetrahydrofolate reductase and glutathione S-transferase M1 gene polymorphisms and chronic myeloid leukemia in a Brazilian population

G. S. Lordelo, Miranda-Vilela, A. L., Akimoto, A. K., Alves, P. C. Z., Hiragi, C. O., Nonino, A., Daldegan, M. B., Klautau-Guimarães, M. N., and Grisolia, C. K., Association between methylene tetrahydrofolate reductase and glutathione S-transferase M1 gene polymorphisms and chronic myeloid leukemia in a Brazilian population, vol. 11, pp. 1013-1026, 2012.

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.

Genetic composition of a Brazilian population: the footprint of the Gold Cycle

E. M. Queiroz, Santos, A. M., Castro, I. M., Machado-Coelho, G. L. L., Cândido, A. P. C., Leite, T. M., Pereira, R. W., and Freitas, R. N., Genetic composition of a Brazilian population: the footprint of the Gold Cycle, vol. 12, pp. 5124-5133, 2013.

Ancestry-informative markers (AIMs) are powerful tools for inferring the genetic composition of admixed populations. In this study, we determined the genetic ancestry of the Ouro Preto (Brazil) population and evaluated the association between ancestry and self-reported skin color. The genetic ancestry of 189 children and adolescents was estimated by genotyping 15 AIMs. The estimate of population admixture was determined using the Bayesian Markov Chain Monte Carlo (MCMC) method implemented in two different programs (STRUCTURE and ADMIXMAP).

ABO genotyping in leukemia patients reveals new ABO variant alleles

M. C. Z. Novaretti, Domingues, A. E., Manhani, R., Pinto, E. M., Dorlhiac-Llacer, P. E., and Chamone, D. A. F., ABO genotyping in leukemia patients reveals new ABO variant alleles, vol. 7, pp. 87-94, 2008.

The ABO blood group is the most important blood group system in transfusion medicine and organ transplantation. To date, more than 160 ABO alleles have been identified by molecular investigation. Almost all ABO genotyping studies have been performed in blood donors and families and for investigation of ABO subgroups detected serologically. The aim of the present study was to perform ABO genotyping in patients with leukemia.

Genetic polymorphisms in TLR4, CR1 and Duffy genes are not associated with malaria resistance in patients from Baixo Amazonas region, Brazil

S. C. Soares, Abé-Sandes, K., Filho, V. B. Nascimento, Nunes, F. M. F., and Silva, Jr., W. A., Genetic polymorphisms in TLR4, CR1 and Duffy genes are not associated with malaria resistance in patients from Baixo Amazonas region, Brazil, vol. 7, pp. 1011-1019, 2008.

The main purpose of this research was to analyze the relation of the genetic polymorphisms frequently expressed by antigen-presenting cells, erythrocytes and malaria susceptibility/resistance with the human malaria infection cases. The sample used consisted of 23 Plasmodium vivax (Pv)- and P. falciparum (Pf)-infected patients, and 21 healthy individuals as a control group, from the Baixo Amazonas population in Pará, Brazil.

Utility of STR markers for the molecular diagnosis of a large Brazilian family with Charcot-Marie-Tooth disease

C. O. Possamai, Carvalho, F. M., Silva, M. F. C., Wolfgramm, E. V., Sartori, M. P. N., Malta, F. S. V., Ribeiro, V. P., Spina, V. P., Gomes, K. B., Ferreira, A. C. S., and Louro, I. D., Utility of STR markers for the molecular diagnosis of a large Brazilian family with Charcot-Marie-Tooth disease, vol. 7, pp. 1179-1185, 2008.

Charcot-Marie-Tooth type 1A disease (CMT1A) is most frequently caused by a tandem DNA duplication of a 1.4-Mb genomic fragment in the 17p11.2-12 chromosomal region. The disease is probably the product of a dosage effect of the peripheral myelin protein 22 gene located within the duplicated segment. We sought to study the largest reported Brazilian family with suspected diagnosis of CMT1A using eight short tandem repeat microsatellite markers. In addition, we analyzed the informativeness of these markers in the normal Brazilian population.

α-Thalassemia (3.7 kb deletion) in a population from the Brazilian Amazon region: Santarém, Pará State

A. E. S. Souza, Cardoso, G. L., Takanashi, S. Y. L., and Guerreiro, J. F., α-Thalassemia (3.7 kb deletion) in a population from the Brazilian Amazon region: Santarém, Pará State, vol. 8, pp. 477-481, 2009.

The ethnic composition of the Brazilian population favors high frequencies of the -α3.7 deletion, responsible for α-thalassemia, because this mutation is very common in African populations. In spite of its importance, this hemoglobinopathy has been poorly investigated in Brazil, especially at the molecular level. We investigated the prevalence of the -α3.7 mutation in 220 individuals attended at the Municipal Hospital of Santarém, in the state of Pará.

The mutation G298A®Ala100Thr on th coding sequence of the Duffy antigen/chemokine receptor gene in non-caucasian Brazilians

A. Cristina Estalote, Proto-Siqueira, R., Da Silva, Jr., W. Araújo, Zago, M. Antonio, and Palatnik, M., The mutation G298A®Ala100Thr on th coding sequence of the Duffy antigen/chemokine receptor gene in non-caucasian Brazilians, vol. 4, pp. 166-173, 2005.

Ala100Thr has been suggested to be a Caucasian genetic marker on the FY*B allele. As the Brazilian population has arisen from miscegenation among Portuguese, Africans, and Indians, this mutation could possibly be found in Euro- and Afro-Brazilians, or in Brazilian Indians. Fifty-three related individuals and a random sample of 100 subjects from the Brazilian population were investigated using the polymerase chain reaction and four restriction fragment length polymorphisms.

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