Research Article

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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
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
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
09/23/2002
Molecular diagnosis; Turner syndrome; X-Chromosome methylation

Turner syndrome is caused by haploinsufficiency of the short arm of X-chromosome, and is usually diagnosed by karyotyping. This procedure is time-consuming, expensive and unfeasible for population screening. We propose molecular detection of 45XO Turner patients based on the ability of HpaII, a methylation sensitive endonuclease, to induce the cleavage of non-methylated DNA in ... more

C.Alberto Longui; M.Neves Rocha; L.Carla Albu Martinho; G.Gir Gomes; R.Eustachio de Miranda; T.Alves de S. Lima; M.Barbosa Melo; O. Monte
01/22/2008
Androgen receptor; Molecular diagnosis; Short stature; Turner syndrome

Turner syndrome (TS) is one of the most common chromosomal abnormalities among girls. Complete monosomy of X chromosome is responsible for almost 50% of all cases of TS, and mosaicism and X anomaly are detected in the other half. It has already been demonstrated that early diagnosis of these children allows appropriate growth hormone treatment with better final height prognosis and ... more

C.C. Figueiredo; C. Kochi; C.A. Longui; M.N. Rocha; F. Richeti; N.M.A. Evangelista; L.E.P. Calliari; O. Monte
01/18/2011
ABC transporters; ABCD1 gene; Addison’s disease; Adrenoleukodystrophy; Molecular diagnosis; X-linked

Adrenoleukodystrophy is a neurodegenerative X-linked re­cessive disorder. It is characterized by abnormal function of peroxisomes, which leads to an accumulation of very long-chain fatty acids in plasma and tissues, especially in the cortex of adrenal glands and white matter of the central nervous system, causing demyelinating disease and adrenocortical insufficiency (Addison’s disease). ... more

E.R. Valadares; A.L.C. Trindade; L.R. Oliveira; A.L.B. Godard; R.R. Arantes; M.V. Daker; B.M. Viana; V.G. Haase; L.B. Jardim; G.C. Lopes
10/13/2010
IHHNV; Litopenaeus vannamei; Molecular diagnosis; RT-PCR; Shrimp aquaculture; Shrimp virus

The Pacific whiteleg shrimp Litopenaeus vannamei (Penaeidae) is one of the most important cultivated species in world aquaculture. In Brazil, the northeastern states are home to the main shrimp producers. As shrimp aquaculture has expanded and intensified, diseases have progressively become one of the most serious threats to this industry. Infectious hypodermal and hematopoietic ... more

M.A. Teixeira; J.E.F. Cruz; P.R.N. Vieira; I.R.C. Branco; F.H.F. Costa; G. Rádis-Baptista
10/29/2013
FMF; MEFV gene; Molecular diagnosis; Mutation

The purpose of this study was to determine the spectrum of the most common mutations in the familial Mediterranean fever gene (MEFV) in Turkish patients from the Central Anatolia region, by using two different methods for detecting FMF-associated mutations with different screening panels, and compare our results with other diagnostic molecular genetics centers. A total of 1579 ... more

A.G. Zamani; A. Acar; M.S. Yildirim
06/18/2015
Fragile X syndrome; Mental disability; Molecular diagnosis; Northeast Brazil

The objective of this study was to perform a study of fragile X syndrome (FXS) in São Luís, Maranhão, in males residing in five specialized institutions. Two hundred thirty-eight males with intel­lectual disability of unknown etiology participated in this study. Blood samples were processed and stored until DNA extraction. Screening for FMR1 gene mutations was performed using non ... more

M.T.M. Viveiros; M.D.C. Santos; J.M.Dos Santos; D.M. Viveiros; M.R.M. Cavalcante; A.J.M. Caldas; M.M.G. Pimentel
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

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