Time filter

Source Type

Reis F.G.,Federal University of Goais | Reis F.G.,Pontifical Catholic University of Goiás | Pinto I.P.,Federal University of Goais | Pinto I.P.,Pontifical Catholic University of Goiás | And 14 more authors.
Genetics and Molecular Research | Year: 2017

Genomic disorders are genetic diseases that are caused by rearrangements of chromosomal material via deletions, duplications, and inversions of unique genomic segments at specific regions. Such rearrangements could result from recurrent non-allelic homologous recombination between low copy repeats. In cases where the breakpoints flank the low copy repeats, deletion of chromosomal segments is often followed by reciprocal duplication. Variations in genomic copy number manifest differently, with duplication and deletions of the same genomic region showing opposite phenotypes. Sotos syndrome is caused by alterations in the dosage of NSD1 on human chromosome 5 by either deletions or mutations, such as microdeletion of 5q35.2q35.3. In general, patients carrying reciprocal microduplication at 5q35.2q35.3 present no clinical phenotype or milder phenotype than do patients with microdeletion at the same locus. We report the first case of 5q35.2q35.3 microduplication encompassing NSD1 in a patient from central Brazil. We identified a genomic imbalance corresponding to a de novo 0.45 Mb microduplication at 5q35.2q35.3 by chromosomal microarray analysis and study of low-copy repeats. The proband had microduplication in the chromosomal region containing NSD1, which resulted in a Sotos syndrome reversed phenotype, and this duplication was associated with microcephaly, short stature, and developmental delay. Analysis of the genomic structure of the rearranged 5q35.2q35.3 chromosomal region revealed two major low-copy repeat families, which caused the recurrent rearrangements. Chromosomal microarray analysis is a potential tool to identify microrearrangements and guide medical diagnosis, which has to be followed by a non-directive genetic counseling approach to improve the quality of life of the patient. © 2017 The Authors.

Silva M.B.,University Catolica Of Goias | Silva D.D.M.E.,University Catolica Of Goias | Silva D.D.M.E.,Laboratorio Of Citogenetica Humana E Genetica Molecular | Rodovalho R.G.,Laboratorio Biocroma | And 4 more authors.
Forensic Science International: Genetics | Year: 2010

Allele frequencies for 15 short tandem repeats included in Powerplex 16 Kit (Penta E, D18S51, D21S11, TH01, D3S1358, FGA, TPOX, D8S1179, vWA, Penta D, CSF1PO, D16S539, D7S820, D13S317 and D5S818) were determined in a sample of 429 unrelated individuals from the population of Goiânia, Goias, Central Brazil. Determination of the allele frequencies as well as of several commonly used statistics in forensic and paternity testing were defined. The forensic parameters presented high values and the most polymorphic loci were Penta E, following FGA and D18S51. The exact test demonstrated that the fifteen loci analyzed in the population of Goiania have no deviation from Hardy-Weinberg equilibrium (P > 0.05). © 2009 Elsevier Ireland Ltd. All rights reserved.

Vieira T.C.,Federal University of Goais | Vieira T.C.,Laboratorio Of Citogenetica Humana E Genetica Molecular | Vieira T.C.,Pontifical Catholic University of Goiás | Vieira T.C.,State University of Goiás | And 9 more authors.
Genetics and Molecular Research | Year: 2014

The central region of Brazil was colonized by internal migration of individuals of different origins, who contributed to the genetic diversity existing in this population. This study determined the allele frequencies and haplotype diversity of Y-STRs in Goiás State, Central Brazil, and compared the data obtained with a sample of the Brazilian population, consisting of individuals from the five geographical regions of Brazil. A total of 353 males were typed for 12 Y-chromosome short tandem repeat (Y-STR) markers. We selected males who had no degree of relatedness, from the five mesoregions of Goiás State. DNA was extracted from blood samples followed by the amplification of the 12 Y-chromosome loci. The products were analyzed to obtain the allele profiles on an ABI3500 automated sequencer using the Gene Mapper software. Allele frequencies and haplotype diversity were estimated by direct counting, and gene diversity for each locus was computed using the Arlequin software. The results are consistent with the history of miscegenation of the population of Central Brazil, in which we observed 321 different haplotypes. The average gene diversity at the 12 loci was 0.645. DYS385b and DYS389I showed the highest (0.704) and lowest (0.520) genetic diversity values, respectively. The FST value between the Brazilian and Goiás populations was 0.00951, showing no statistical significance. The results of this study allowed the establishment of haplotypes found in the forensic samples of Goiás State serving as a reference in the elucidation of criminal cases and paternity tests, as well as population and evolutionary inferences. © FUNPEC-RP.

Minasi L.B.,Pontifical Catholic University of Goiás | Pinto I.P.,Pontifical Catholic University of Goiás | de Almeida J.G.,Pontifical Catholic University of Goiás | de Melo A.V.,Pontifical Catholic University of Goiás | And 12 more authors.
Genetics and Molecular Research | Year: 2015

We describe the first postnatal diagnosis of a child from Central Brazil with de novo cytogenetic alterations in 13q showing malformations of the brain, eyes, distal limbs, and genitourinary tract, and severe intellectual disability. The karyotype was a constitutive 46,XX,r(13)[77]/45,XX,-13[17]/46,XX,idic r(13)[6]. Interphase and metaphase fluorescence in situ hybridization analyses also showed the absence of 13qter and the presence of 13q14.3 in the cells with r(13), and chromosome microarray analysis detected a 15.39 Mb deletion in chromosome region 13q32.3-q34. This study is intended as the registry of a rare case of chromosomal rearrangement involving chromosome 13 in Central Brazil. Further studies are needed to define whether genetic haploinsufficiency is associated with each major 13q deletion anomaly. ©FUNPEC-RP.

Hannum R.,Pontifical Catholic University of Goiás | Godoy F.R.,Pontifical Catholic University of Goiás | da Cruz A.S.,Pontifical Catholic University of Goiás | da Cruz A.S.,Federal University of Goais | And 13 more authors.
Genetics and Molecular Research | Year: 2015

Because of the complex interaction between periodontal pathogens and the host defense system, periodontitis is considered an inflammatory disorder of bacterial etiology that results in periodontal tissue damage. Genetic mechanisms may interfere with the gene expression of important inflammation mediators, modulating the immunologic response of an individual. In this study, we evaluated the single nucleotide polymorphism -1082G/A in the promoter region of interleukin-10 gene and its relationship with periodontal disease in Central Brazil. We included 36 cases classified according to disease severity (mild, moderate, or severe) and 30 controls. The allelic distribution of the cases was 16 (44%) AG, followed by 13 (36%) GG and 7 (20%) with the genotype AA. In the control group, 13 (43%) presented the genotype AG, 12 (40%) GG and 5 (17%) were classified as AA. The populations examined were in Hardy-Weinberg equilibrium. Analysis of allelic and genotypic frequencies revealed no casual relationship with the presence of genotype G or A and the development of periodontal disease in adults. The single nucleotide polymorphism -1082G/A of the interleukin-10 gene was not predictive of periodontal disease. © FUNPEC-RP.

Leite A.J.C.,Pontifical Catholic University of Goiás | Pinto I.P.,Pontifical Catholic University of Goiás | Pinto I.P.,Federal University of Goais | Da Cruz E Cunha D.M.,Pontifical Catholic University of Goiás | And 9 more authors.
BioMed Research International | Year: 2016

The chromosome 22q11.2 region has long been implicated in genomic diseases. Some genomic regions exhibit numerous low copy repeats with high identity in which they provide increased genomic instability and mediate deletions and duplications in many disorders. DiGeorge Syndrome is the most common deletion syndrome and reciprocal duplications could be occurring in half of the frequency of microdeletions. We described five patients with phenotypic variability that carries deletions or reciprocal duplications at 22q11.2 detected by Chromosomal Microarray Analysis. The CytoScan HD technology was used to detect changes in the genome copy number variation of patients who had clinical indication to global developmental delay and a normal karyotype. We observed in our study three microdeletions and two microduplications in 22q11.2 region with variable intervals containing known genes and unstudied transcripts as well as the LCRs that are often flanking and within this genomic rearrangement. The identification of these variants is of particular interest because it may provide insight into genes or genomic regions that are crucial for specific phenotypic manifestations and are useful to assist in the quest for understanding the mechanisms subjacent to genomic deletions and duplications. © 2016 Ana Julia Cunha Leite et al.

Pinto I.P.,Pontifical Catholic University of Goiás | Pinto I.P.,Federal University of Goais | Minasi L.B.,Pontifical Catholic University of Goiás | Minasi L.B.,Federal University of Goais | And 13 more authors.
Molecular Cytogenetics | Year: 2014

Background: Chromosome abnormalities that segregate with a disease phenotype can facilitate the identification of disease loci and genes. The relationship between chromosome 18 anomalies with severe intellectual disability has attracted the attention of cytogeneticists worldwide. Duplications of the X chromosome can cause intellectual disability in females with variable phenotypic effects, due in part to variations in X-inactivation patterns. Additionally, deletions of the 7qter region are associated with a range of phenotypes. Results: We report the first case of de novo microdeletion at 7q and 18p, 18q partial trisomy, microduplication at Xp associated to intellectual disability in a Brazilian child, presenting a normal karyotype. Karyotyping showed any chromosome alteration. Chromosomal microarray analysis detected a de novo microdeletion at 18p11.32 and 18q partial trisomy, an inherited microdeletion at 7q31.1 and a de novo microduplication at Xp22.33p21.3. Conclusions: Our report illustrates a case that presents complex genomic imbalances which may contribute to a severe clinical phenotypes. The rare and complex phenotypes have to be investigated to define the subsets and allow the phenotypes classification. © 2014 Pinto et al.; licensee BioMed Central Ltd.

Amancio A.P.,Pontifical Catholic University of Goiás | Melo C.A.O.,Pontifical Catholic University of Goiás | Vieira A.M.,Pontifical Catholic University of Goiás | Minasi L.B.,Pontifical Catholic University of Goiás | And 6 more authors.
Genetics and Molecular Research | Year: 2015

The aim of this study was to validate the molecular genetic diagnosis of patients suspected of Fragile X Syndrome (FXS) in the Laboratory of Human Cytogenetics and Molecular Genetics (LaGene) of the Department of Health of the State of Goiás, using polymerase chain reaction (PCR). Thirty-five patients referred by public health doctors to LaGene, indicating clinical diagnosis of FXS, were selected for this study. Two PCR analyses were performed using different primers, one for screening (PCR-T) and one for the detection of the pre-mutation (PCR-P). The products of both PCRs were subjected to polyacrylamide gel electrophoresis and then coloring. The visualization of amplicons was performed with the aid of an ultraviolet transilluminator. The diagnosis was confirmed in 88% of patients with PCR-T and 100% with PCR-P. The primer used in PCR-P was found to be more sensitive and specific, allowing to identify the mutation in the samples, generating a more conclusive case for FXS, noting that the PCR-T is also required for the pre-classification of patients. Generally, the PCR technique is cheaper and easier to handle; therefore, we suggest the implementation of PCR in the genetics laboratory of the State of Goiás (LaGene) for the diagnosis of FXS. © FUNPEC-RP.

Pereira R.R.,Pontifical Catholic University of Goiás | Pereira R.R.,Federal University of Goais | Pinto I.P.,Pontifical Catholic University of Goiás | Minasi L.B.,Pontifical Catholic University of Goiás | And 14 more authors.
PLoS ONE | Year: 2014

Intellectual disability is a complex, variable, and heterogeneous disorder, representing a disabling condition diagnosed worldwide, and the etiologies are multiple and highly heterogeneous. Microscopic chromosomal abnormalities and wellcharacterized genetic conditions are the most common causes of intellectual disability. Chromosomal Microarray Analysis analyses have made it possible to identify putatively pathogenic copy number variation that could explain the molecular etiology of intellectual disability. The aim of the current study was to identify possible submicroscopic genomic alterations using a high-density chromosomal microarray in a retrospective cohort of patients with otherwise undiagnosable intellectual disabilities referred by doctors from the public health system in Central Brazil. The CytoScan HD technology was used to detect changes in the genome copy number variation of patients who had intellectual disability and a normal karyotype. The analysis detected 18 CNVs in 60% of patients. Pathogenic CNVs represented about 22%, so it was possible to propose the etiology of intellectual disability for these patients. Likely pathogenic and unknown clinical significance CNVs represented 28% and 50%, respectively. Inherited and de novo CNVs were equally distributed. We report the nature of CNVs in patients from Central Brazil, representing a population not yet screened by microarray technologies. © 2014 Pereira et al.

Loading Laboratorio Of Citogenetica Humana E Genetica Molecular collaborators
Loading Laboratorio Of Citogenetica Humana E Genetica Molecular collaborators