Research Article

Related GMR Articles

04/29/2005
Amerindians; Brazilian population; DARC; DNA polymorphism; Duffy blood group; Genetic polymorphisms

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 ... more

A.Cristina Estalote; R. Proto-Siqueira; W.Araújo Da Silva; M.Antonio Zago; M. Palatnik
04/28/2009
-α3.7 deletion; Alpha-thalassemia; Brazilian population

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 ... more

A.E.S. Souza; G.L. Cardoso; S.Y.L. Takanashi; J.F. Guerreiro
10/07/2008
Brazilian population; Complement receptor-1; Duffy blood group; Genetic polymorphisms; Malaria; Toll-like receptor

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, ... more

S.C. Soares; K. Abé-Sandes; V.B.Nascimento Filho; F.M.F. Nunes; W.A. Silva
10/28/2008
17p11.2-p12 duplication; Brazilian population; Charcot-Marie-Tooth 1A; Molecular diagnosis; Short tandem repeat markers

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 ... more

C.O. Possamai; F.M. Carvalho; M.F.C. Silva; E.V. Wolfgramm; M.P.N. Sartori; F.S.V. Malta; V.P. Ribeiro; V.P. Spina; K.B. Gomes; A.C.S. Ferreira; I.D. Louro
02/01/2008
ABO blood group; ABO gene; Brazilian population; DNA polymorphism; Genetic polymorphism; Leukemia

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 ... more

M.C.Z. Novaretti; A.E. Domingues; R. Manhani; E.M. Pinto; P.E. Dorlhiac-Llacer; D.A.F. Chamone
10/29/2013
Ancestry-informative markers; Brazilian population; Genetic ancestry; Skin color

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 ... more

E.M. Queiroz; A.M. Santos; I.M. Castro; G.L.L. Machado-Coelho; A.P.C. Cândido; T.M. Leite; R.W. Pereira; R.N. Freitas
04/19/2012
Association study; Brazilian population; Chronic myeloid leukemia; Genetic polymorphisms; Hardy-Weinberg equilibrium

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{ ... more

G.S. Lordelo; A.L. Miranda-Vilela; A.K. Akimoto; P.C.Z. Alves; C.O. Hiragi; A. Nonino; M.B. Daldegan; M.N. Klautau-Guimarães; C.K. Grisolia
04/30/2021
Brazilian population; Chronic lymphocytic leukemia; Genetic polymorphisms; Glutathione S-transferase

Genetic polymorphisms involved in carcinogen metabolism contribute to leukemogenesis risk. Epidemiological studies have revealed genetic alterations in chronic lymphocytic leukemia (CLL), including chromosome alterations, noncoding RNA alterations, and genetic polymorphisms. The bioactivation and detoxification of chemical agents is mediated by xenobiotic ... more

A.Ada S. Reis; K.C. de Alcântara; L.C.A. de Souza; H.G.C. Fontinele; D.L.C. de Farias; L.R.Bdos Anjos; daS. Santos
12/28/2015
Autoimmune disease; CTLA-4; PTPN22; TNF-α; Type 1 diabetes mellitus

Type 1 diabetes mellitus (T1D) is a complex disorder characterized by an autoimmune response against human pancreatic beta-cells. Patients with T1D can also develop a response toward one or more other factors, such as in autoimmune thyroiditis (AITD) and celiac disease (CD). In the presence of T1D + AITD, the patient is diagnosed with autoimmune polyglandular syndrome type III (APSIII); ... more

N.A.C. Tavares; M.M.S. Santos; R. Moura; J. Araújo; R.L. Guimarães; S. Crovella; L.A.C. Brandão
11/27/2015
CD226; Chinese; Polymorphism; Type 1 diabetes

Polymorphisms in the CD226 gene have been reported to be associated with autoimmune diseases. The aim of our study was to investigate the association between two single nucleotide polymorphisms (SNPs) (rs763361 and rs727088) in the CD226 gene and the risk for developing type 1 diabetes (T1D) in Chinese Han children. This case-control study included a total of 152 Chinese children with T1D and ... more

J.S. Xi; C.L. Nie; J. Wang; Y. Ma; A.H. Ma

Pages