Research Article

Related GMR Articles

2017 Apr 28
Chromosomes, Human, Y; Databases, Nucleic Acid; Forensic genetics; Haplotypes; Humans; male; Microsatellite Repeats; Polymerase chain reaction

The use of Y chromosome haplotypes, important for the detection of sexual crimes in forensics, has gained prominence with the use of databases that incorporate these genetic profiles in their system. Here, we optimized and validated an amplification protocol for Y chromosome profile retrieval in reference samples using lesser materials than those in commercial kits. FTA cards (Flinders ... more

C.A. Souza; T.C. Oliveira; S. Crovella; S.M. Santos; K.C.N. Rabêlo; E.P. Soriano; M.V.D. Carvalho; A.F.Caldas Junior; G.G. Porto; R.I.C. Campello; A.A. Antunes; R.A. Queiroz; S.M. Souza
05/04/2017
Atherosclerosis; Case-control studies; Female; Genotype; Heterozygote; Humans; male; Middle Aged; Mutation, Missense; Nitric Oxide Synthase Type III; Polymorphism, Single Nucleotide

Atherosclerotic and its cardiovascular complications are responsible for 17.5 million deaths a year, according to the World Health Organization. There is consensus that atherosclerosis involves multiple pathogenic processes initiated by endothelial dysfunction, with inflammation and vascular proliferation determining alterations in the matrix, with consequent formation of the atheromatous ... more

F.L. Campedelli; K.S.F.E. Silva; D.A. Rodrigues; J.V.M. Martins; I.R. Costa; M.H. Lagares; A.M. Barbosa; M.P. de Morais; K.K.V.O. Moura
05/10/2017
Brain Neoplasms; Case-control studies; China; Female; Fusion Regulatory Protein 1, Light Chains; Glioma; Humans; male; Middle Aged; Polymorphism, Single Nucleotide

Gliomas are brain tumors that can be seriously damaging to human health. The SLC7 family is involved in amino acid or peptide transportation. The relationship between SLC7A7 polymorphisms and the development of glioma has been reported previously by a few studies. Therefore, we performed a hospital based case-control study to investigate the association of three common SNPs (rs12888930, ... more

H. Zhang; W.J. Shi
05/18/2017
Adult; Arsenic; Arsenic Poisoning; Case-control studies; DNA Breaks, Double-Stranded; DNA Breaks, Single-Stranded; Drinking Water; Female; Humans; male; Mexico

Different studies have suggested an association between arsenic (As) exposure and damage to single-stranded DNA by reactive oxygen species derived from the biotransformation of arsenic. The single strand damages are converted to double strand damage upon interaction with ultraviolet radiation. Analysis of genomic integrity is important for assessing the genotoxicity caused by environmental ... more

J. Jiménez-Villarreal; D.I. Rivas-Armendáriz; C.P. Pineda-Belmontes; N.D. Betancourt-Martínez; M.A. Macías-Corral; A.J. Guerra-Alanis; M.S. Niño-Castañeda; J. Morán-Martínez
05/18/2017
Adolescent; Case-control studies; Child; Child, Preschool; Drug Resistant Epilepsy; Epilepsies, Myoclonic; Female; Humans; Infant; male; Mutation, Missense; NAV1.1 Voltage-Gated Sodium Channel; Polymorphism, Single Nucleotide

Mutations in the SCN1A gene can result in syndromes associated with epilepsy, including the Dravet syndrome (DS). However, the prevalence of such mutations in these diseases varies widely between different studies, and has not been examined in Mexican patients with epilepsy. Therefore, the objective of this study was to determine the frequency of SCN1A mutations (in the exon 26) in a cohort of ... more

R.E. Jiménez-Arredondo; A.J.L. Brambila-Tapia; F.M. Mercado-Silva; M.T. Magaña-Torres; L.E. Figuera
05/25/2017
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
05/31/2017
Adult; Brazil; Case-control studies; Female; Hepatitis B, Chronic; HLA-DP beta-Chains; HLA-DQ Antigens; Humans; male; Middle Aged; Polymorphism, Single Nucleotide

Hepatitis B virus (HBV) infection is a serious public health problem worldwide. The progression of the disease depends on several host and viral factors and may result in fulminant hepatitis (very rare), acute hepatitis with spontaneous clearance, and chronic hepatitis B infection. Previous studies demonstrated that variations in the human leukocyte antigen (HLA) class II (HLA-DPB1 and HLA- ... more

V.R.Z.B. Pereira; J.M. Wolf; G.Z. Stumm; T.R. Boeira; J. Galvan; D. Simon; V.R. Lunge
05/31/2017
Adult; Female; Glucuronides; Glucuronosyltransferase; Graft Rejection; Humans; Kidney transplantation; male; Middle Aged; Mycophenolic Acid; Polymorphism, Single Nucleotide

Mycophenolate mofetil (MMF) is a prodrug active only after its hydrolysis to mycophenolic acid (MPA). The UGT1A9 enzyme is of special interest since it is the main enzyme involved in the glucuronidation of MPA. Single nucleotide polymorphisms (SNPs) in the UGT1A9 gene may be responsible for individual differences in the pharmacokinetics of MMF. Expression levels and the activity of UGT1A9 may ... more

L.R. Ruschel; V.M. Schmitt; A.B. Silva; C.S.A. Oliveira; K. Flach; D.O. d'Avila; F.V. Thiesen
06/29/2017
Adolescent; Adult; Anemia, Sickle Cell; Child; Child, Preschool; Female; Gene Deletion; Haplotypes; Hemoglobins; Humans; male; Middle Aged; Polymorphism, Genetic; Receptors, CCR5

Sickle cell disease shows several clinical manifestations in distinct levels of severity. This heterogeneity is due to the haplotype variability associated with the HbS gene, levels of fetal hemoglobin and environmental conditions, which modify the disease expression. Science community believes that the presence of a polymorphism in the CCR5 gene, which is related to chronic inflammatory state ... more

A.F. Nascimento; J.S. Oliveira; J.C.Silva Junior; A.A.L. Barbosa
07/06/2017
Aged; Case-control studies; China; Endothelin-1; Female; Gene frequency; Humans; Hypertension; male; Middle Aged; Mutation, Missense; Polymorphism, Single Nucleotide

Endothelin-1 (ET-1) is the most potent endogenous vasoconstrictor and is involved in several vascular disorders such as hypertension. Its strong interaction with other vasoactive hormone systems suggests that the ET-1 gene (EDN1) is a potential candidate molecule that influences the risk of developing hypertension. Recently, two single nucleotide polymorphisms in EDN1 have been reported to be ... more

Z. Fang; M. Li; Z. Ma; G. Tu

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