Research Article

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04/13/2017
Animals; Gene frequency; Heterozygote; Humans; Polymorphism, Genetic; Software

The gene diversity or expected heterozygosity (H) is based on the allele frequency and is often used as a measure of genetic variability of populations. Knowing the pattern of spatial distribution of H can be useful for determining strategies of conservation and sampling of collections of individuals. In addition, it can allow one to detect genetic boundaries in a landscape. We adapted a ... more

A.R. da Silva; G. Malafaia; I.P.P. Menezes
04/20/2017
Adolescent; Adult; Alleles; Case-control studies; China; Female; Genotype; Humans; Interleukin-6; Keloid; male; Middle Aged; Polymorphism, Single Nucleotide

The aim of the present study is to explore the effect of IL-6 gene polymorphisms on the development of keloid scar (KS) in the Chinese Han population. Genotyping of IL-6 was performed by the polymerase chain reaction (PCR), followed by restriction fragment length polymorphism assays (PCR-RFLP). Serum level of IL-6 was measured using enzyme-linked immunosorbent assay (ELISA). Results indicated ... more

X.J. Zhu; W.Z. Li; H. Li; C.Q. Fu; J. Liu
04/28/2017
Biomarkers, Tumor; Carcinoma, Signet Ring Cell; CDX2 Transcription Factor; Codon; Female; Genes, ras; Humans; male; Middle Aged; Mucins; Mutation; Mutation Rate; Neoplasm Metastasis; Phenotype; Stomach neoplasms

We aimed to analyze gastric signet ring cell (SRC) carcinoma subtypes by investigating gastric and intestinal phenotypic marker expression, and explore the relationship between phenotype and K-ras mutation. Immunohistochemistry was performed on 163 SRC carcinoma patient specimens to detect gastric (MUC1, MUC5AC, and MUC6) and intestinal (MUC2 and CDX2) phenotypic markers, and tumors were ... more

Z.F. Xiong; J. Shi; Z.H. Fu; H.P. Wan; L.X. Tu
04/28/2017
Adolescent; Blood glucose; Case-control studies; Child; Female; Ghrelin; Humans; Insulin resistance; Lipoproteins; male; Obesity; Triglycerides

Childhood obesity is a serious public health concern condition, as excess body fat can negatively affect a child's health. Obestatin is a hormone that regulates body weight by suppressing appetite and reducing food intake; fasting obestatin level is negatively correlated with basal insulin level. This study aims to investigate the role of obestatin in insulin resistance. A total of 54 children ... more

M.Y. Zhang; F. Li; J.P. Wang
04/28/2017
Adolescent; Adult; Brazil; Chlamydia Infections; Chlamydia trachomatis; Female; Genotype; Humans; Middle Aged; Papillomaviridae; Papillomavirus Infections; Prevalence; Trichomonas vaginalis; Trichomonas Vaginitis

Sexually transmitted infections are an important cause of morbidity among sexually active women worldwide, and have been implicated as cofactors in the pathogenesis of cervical cancer. We investigated the prevalence of human papillomavirus (HPV), Chlamydia trachomatis (CT), and Trichomonas vaginalis (TV), and accessed the diversity of HPV in women with normal and abnormal cytology in Manaus, ... more

E. Costa-Lira; A.H.V.L. Jacinto; L.M. Silva; P.F.R. Napoleão; R.A.A. Barbosa-Filho; G.J.S. Cruz; S. Astolfi-Filho; C.M. Borborema-Santos
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
05/18/2017
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

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