Research Article

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07/31/2006
Buccal cells; DNA extraction; Fragile X syndrome; Mental retardation

Fragile X syndrome is one of the most frequent causes of mental retardation. Since the phenotype in this syndrome is quite variable, clinical diagnosis is not easy and molecular laboratory diagnosis is necessary. Usually DNA from blood cells is used in molecular tests to detect the fragile X mutation which is characterized by an unstable expansion of a CGG repeat in the fragile X ... more

D.M. Christofolini; M.V.N. Lipay; M.A.P. Ramos; D. Brunoni; M.I. Melaragno
11/17/2011
Allele drop-out; DNA amplification technique; Fragile X syndrome; Multiple displacement amplification; Preimplantation genetic diagnosis; Trinucleotide repeat expansion

Preimplantation genetic diagnosis (PGD) has become an assisted reproductive technique for couples that have genetic risks. Despite the many advantages provided by PGD, there are several problems, including amplification failure, allele drop-out and amplification inefficiency. We evaluated multiple displacement amplification (MDA) for PGD of the fragile X syndrome. Whole genome ... more

H.S. Lee; M.J. Kim; C.K. Lim; J.W. Cho; I.O. Song; I.S. Kang
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
02/19/2016
Array-CGH; Congenital malformation; Intellectual disability; Northeastern Brazilian patients

In several patients, intellectual disability and/or congenital malformation may be attributed to chromosomal changes. In this study, we conducted an array-CGH test of 200 patients from the Northeast of Brazil with intellectual disability and/or congenital malformation. Blood samples were collected from the proband and from their parents when possible. DNA was extracted and investigated ... more

G.S. Vianna; P.F.V. Medeiros; A.F. Alves; T.O. Silva; F.S. Jehee; G.S. Vianna; P.F.V. Medeiros; A.F. Alves; T.O. Silva; F.S. Jehee
2017 May 25
Adult; Frameshift mutation; Humans; Intellectual disability; male; Methyltransferases

The recent advent of exome sequencing has allowed for the identification of pathogenic gene variants responsible for a variety of diseases that were previously clinically diagnosed, with no underlying molecular etiology. Among these conditions, intellectual disability is a prevalent heterogeneous condition, presenting itself in a large spectrum of intensity, in some cases associated with ... more

E. Stur; L.A. Soares; I.D. Louro
12/12/2017
Capillary electrophoresis; Intellectual disability; X-chromosome
X-Fragile Syndrome (FXS) is the most common cause of inherited
intellectual disability and the second of genetic origin, with an estimated prevalence of
1/4000 men and 1/6000 women. The etiology is associated with a trinucleotide expansion of
CGG sequences and hypermethylation of the promoter region of the FMR1 (Fragile-X
Mental Retardation-1) gene ... more
K.B. Penteado; C.I.S. Gressler; A.D. Da Cruz; T.C. Vieira; M.A.D. Gigonzac
07/31/2015
Lactation; PCR; Serology; Sheep; Toxoplasmosis

The objective of this study was to verify whether Toxoplasma gondii is excreted in the milk of naturally infected sheep. In order to accomplish this, 275 lactating ewes were used; these were bred extensively in 17 estates distributed across nine cities. Polymerase chain reaction amplification was used to detect T. gondii DNA in milk samples, and the indirect ... more

deSantana Rocha; R.Lde Sousa Moura; B.M. Maciel; L.A. Guimarães; H.N.S. O’dwyer; A.D. Munhoz; G.R. Albuquerque
12/28/2015
Genetic relationship; PCR; Polymorphism; RAPD

The artichoke (Cynara scolymus L.) is an important food and medicinal crop that is cultivated in Mediterranean countries. Morphological characteristics, such as head shape and diameter, leaf shape, and bract shape, are mainly affected by environmental conditions. A molecular marker approach was used to analyze the degree of polymorphism between artichoke hybrid lines. The degree ... more

M.A. Sharaf-Eldin; A. Al-Tamimi; P. Alam; S.F. Elkholy; J.R. Jordan
12/28/2015
Forestry species; Genetic parameters; PCR

Nectandra megapotamica (Spreng.) Mez. is a tree species that naturally occurs in the Atlantic Forest, Brazil. The aim of this study was to evaluate the genetic diversity and structure of a natural population of 12 N. megapotamica individuals using random amplified polymorphic DNA markers. Eleven primers were used in this study, producing 81 bands, of which 98.99% were ... more

L.S. Costa; L.R.S. Reiniger; B.M. Heinzmann; L.P. Amaral; C.M.L. Serrote
10/09/2015
High-throughput; Homologous recombination; In vivo cloning; PCR

In this study, we optimized a restriction-ligation-free (RLF) method to save time and cost of constructing multiple plasmids with the same gene insert, and examined the efficacy of RLF on high-throughput multi-plasmid cloning. This method utilizes the precise DNA repair and recombination systems within Escherichia coli, which allows to bypass the in vitro restriction and ... more

Y. Wang; Y. Liu; J. Chen; M.J. Tang; S.L. Zhang; L.N. Wei; C.H. Li; D.B. Wei

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