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2.
Arq. bras. med. vet. zootec. (Online) ; 71(3): 1047-1057, May-June 2019. tab, ilus
Artigo em Inglês | VETINDEX, LILACS | ID: biblio-1011329

RESUMO

This study represents a first attempt to rescue germplasm of a traditional domestic equine cited in early Iberian and South American literature as Curraleiro horse. As an effort to identify and possibly characterize this type of horse we accessed traditional knowledge in strategic rural areas. Most areas were configured by hinterland settlements founded by runaway slave communities from the sixteenth century. Twenty interviews were conducted and analyzed using classical Speech Content Analysis. As a result, five response categories were recognized: 1) Identification and location of Curraleiro horses; 2) Characterization of Curraleiro horses; 3) Historical aspects; 4) Curraleiro horse conservation prospects and 5) Sanitary and productive aspects of Curraleiro horse breeding. We concluded that although scarce, the Curraleiro horse, cited in literature, still exists and showed phenotypical features which allow fine discrimination from any officially recognized breed in Brazil. Our findings may open the door for the recognition of a genuine animal resource which could play a role in rural development for specific regions and traditional communities. Speech Content Analysis was effective for in loco identification and characterization of rare traditional livestock. Thus, we encourage the usage of this tool as an alternative to subsidize identification and genetic conservation programs worldwide.(AU)


Esse estudo representa uma primeira tentativa de resgate de germoplasma em um equino doméstico tradicional citado em literatura precoce Iberiana e Sul Americana como um cavalo Curraleiro. Num esforço de identificar e possivelmente caracterizar esse tipo de cavalo, acessamos conhecimento tradicional em diversas áreas rurais estratégicas. A maioria consistia em assentamentos rurais fundados por comunidades escravas foragidas no século dezesseis. Vinte entrevistas foram conduzidas e analisadas utilizando análise de conteúdo de discurso clássico. Como resultado, cinco categorias de resposta foram reconhecidas: 1) Identificação e localização de cavalos Curraleiros; 2) Caracterização de cavalos curraleiros; 3) Aspectos históricos, 4) Perspectivas de conservação, e 5) Aspectos sanitários e produtivos da criação de cavalos Curraleiros. Concluímos que, apesar de escasso, o cavalo Curraleiro, citado na literatura, ainda existe e apresenta características fenotípicas que permitem discriminação de raças oficialmente reconhecidas no Brasil. Nossos achados podem abrir alas para o reconhecimento de um recurso animal genuíno que pode ter um papel no desenvolvimento rural em regiões específicas e comunidades tradicionais. Análise de conteúdo de discurso foi eficaz para identificação e caracterização in loco de criação tradicional rara. Desta forma, encorajamos o uso dessa ferramenta como alternativa para subsídio de identificação e programas de conservação genética ao redor do mundo.(AU)


Assuntos
Animais , Ecótipo , Cavalos/genética , População Rural
3.
Arq. bras. med. vet. zootec. (Online) ; 71(2): 720-721, mar.-abr. 2019. tab
Artigo em Inglês | LILACS, VETINDEX | ID: biblio-1038590

RESUMO

O objetivo desta pesquisa foi avaliar os SNPs rs471462296, rs456245081 e rs438495570 do gene DGAT1 em bovinos Nelore. Foram analisados 109 bovinos. A extração do DNA genômico foi realizada do sangue dos animais, usando-se o kit Ilustra Blood Genomic Prep Mini Spin® (GE Healthcare, UK). A concentração e o grau de pureza do DNA foram determinados por meio de espectrofotômetro (Nanodrop - Thermo Fisher Scientifc, USA). A genotipagem dos SNPs ocorreu mediante o emprego do ensaio Taqman® (Applied Biosystems, USA). Na análise genômica, não foram encontradas alterações nas frequências alélicas e genotípicas (P≥0,05) para os SNPs testados. Dessa forma, a região 5'UTR analisada apresentou-se monomórfica e a variação de SNPs não foi observada, o que limita seu uso como marcadores moleculares para o gene DGAT1 em Nelore.(AU)


Assuntos
Animais , Bovinos , Bovinos/genética , Fenótipo , Genótipo
5.
Oper Dent ; 43(2): E64-E71, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29394139

RESUMO

This study aimed to assess longitudinally the radiopacity of resin composites under the influence of photoactivation and photoaging processes. Ten specimens (1 mm thick and 4 mm in diameter) of three different microhybrid resin composites, Filtek Z250 XT (R1), TPH 3 Spectrum (R2), and Opallis (R3), were prepared for this study. For longitudinal assessment of radiopacity, radiographic images were obtained five times. The first time (T1), the specimens were not photoactivated; the second time (T2), the specimens were photoactivated; and the next three times, photoaging was carried out, with images obtained at 24 hours (T3), 48 hours (T4), and 72 hours (T5) after this process. The photoaging was conducted using LED light (700 lumens, 9 W, 6400 k) under controlled environmental conditions at 37°C (±1°C) and 65% (±5%) relative humidity. The digital system DIGORA Optime was used. The digital images were measured using the histogram function, and then the pixel intensity values were converted into mmAl (the standard unit of radiopacity) using a linear regression function, with minimal adjustment of R2 ≥ 0.9. Data in mmAl were statistically analyzed using an analysis of variance (α=0.05). R2 resin composite showed higher values of radiopacity, R1 resin composite showed intermediate values, and R3 resin composite showed lower values. Only at T1 did the higher radiopacity of R2 composite differ significantly from other groups ( p = 0.0000). After application of treatments (photoactivation and photoaging), all radiopacity values were similar ( p-values to T2=0.0507, T3=0.0536, T4=0.0502, T5=0.0501) due to consecutive increase of radiopacity of R1 and R3 composites from T2. Photoactivation and photoaging processes influenced the radiopacity, but changes occurring in the degree of radiopacity were dependent on the composition and chemical characteristics of each composite used.


Assuntos
Resinas Compostas/química , Cura Luminosa de Adesivos Dentários , Radiografia Dentária , Materiais Dentários/química , Estudos Longitudinais , Teste de Materiais
6.
Genet Mol Res ; 16(2)2017 Apr 05.
Artigo em Inglês | MEDLINE | ID: mdl-28387876

RESUMO

This study aimed to develop a short tandem repeat (STR) multiplex system, made up of 22 highly informative STR loci, for application in forensic genetics. The system comprised 21 polymorphic autosomal loci (D3S1358, TH01, D21S11, D18S51, Penta E, D5S818, D13S317, D7S820, D16S539, CSF1PO, Penta D, vWA, D8S1179, TPOX, FGA, D2S441, D17S1301, D19S433, D18S853, D20S482, and D14S1434) and the amelogenin gene locus. Strategies were developed to overcome the challenges involved in creating a multiplex system. Based on the literature and available databases, the STR loci were selected with the aim to obtain discriminatory markers, and followed specific criteria for this purpose. Primers were projected using the Primer3 software, and AutoDimer was used to evaluate possible interactions between them. The 22 selected STR loci were validated individually and jointly, both to assess their sensitivity and to test the efficiency of the multiplex system. Statistical analyses were based on the genetic data of 450 unrelated individuals living in the State of Goiás, thus allowing the establishment of the parameters necessary to use this system. A total of 239 alleles were detected for the 22 loci in the set, allowing for a probability of identity of 4.23 x 10-25 to be obtained. The combined power of discrimination was 0.999999999999999999999999 and the combined power of exclusion was 0.99999. Upon complete validation of the entire system, this multiplex assay was considered to be a powerful tool for application in human identification by DNA analysis.


Assuntos
DNA/análise , Genética Forense/métodos , Repetições de Microssatélites , Reação em Cadeia da Polimerase Multiplex/métodos , Alelos , DNA/genética , Primers do DNA , Frequência do Gene , Genética Populacional , Humanos , Técnicas de Diagnóstico Molecular/métodos , Polimorfismo Genético
7.
Genet Mol Res ; 16(1)2017 Jan 23.
Artigo em Inglês | MEDLINE | ID: mdl-28128410

RESUMO

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.


Assuntos
Transtornos Cromossômicos/diagnóstico , Transtornos Cromossômicos/genética , Duplicação Cromossômica , Cromossomos Humanos Par 5 , Brasil , Humanos , Masculino , Fenótipo
8.
Genet Mol Res ; 15(4)2016 Dec 19.
Artigo em Inglês | MEDLINE | ID: mdl-28002585

RESUMO

We investigated the association between an aggrecan gene (ACAN) polymorphism and lumbar disc herniation (LDH). This was a case-control study with quinquennial age and gender groups. The study comprised 119 men and women aged between 20 and 60 from Goiânia (Brazil). Of these, 39 were allocated to the case group (Ca) and 80 to the control group (Ct). We gathered sociodemographic and clinical data, and peripheral blood samples. DNA was isolated for genotyping the ACAN variable number tandem repeat (VNTR) via conventional polymerase chain reaction (PCR). Data were statistically analyzed using the chi-square test, multiple comparison analysis, the Student t-test, and odds ratios, with a level of significance set at 5% (P ≤ 0.05). The groups were homogenous in terms of sociodemographic, anthropometric, and life style variables. The allele score for the ACAN VNTR was significantly lower in volunteers with LDH; the A22 allele was significantly more prevalent in this same group; the Ca group presented greater frequency of short alleles A13-A25, whereas the Ct group presented a higher frequency of long alleles. However, this difference was not statistically significant. In both groups, the most common alleles were A28, A27, and A29, and the A26/A26 genotype was significantly more common in the Ca group. The results showed an association between short alleles and LDH among the investigated adults (Ca), corroborating the hypothesis that aggrecan with shorter repeat lengths can lead to a reduction in the physiological proteoglycan function of intervertebral disc hydration and, consequently, increased individual susceptibility to LDH.


Assuntos
Agrecanas/genética , Degeneração do Disco Intervertebral/genética , Deslocamento do Disco Intervertebral/genética , Repetições Minissatélites , Adulto , Povo Asiático/genética , Estudos de Casos e Controles , Feminino , Predisposição Genética para Doença , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem
9.
Genet Mol Res ; 15(2)2016 May 09.
Artigo em Inglês | MEDLINE | ID: mdl-27173344

RESUMO

Gestational diabetes is a genetic multifactorial systemic disease that has been extensively studied. Consequently, there is a large volume of scientific literature pertaining to genes associated with gestational diabetes. The aim of this study was to characterize the main trends in scientific publications focusing on the associations between genetic polymorphisms and gestational diabetes mellitus (GDM). The related articles were extracted from Scopus using the key words "genetic polymorphism" and "gestational diabetes mellitus"; the collected data focused on various fields (medical, biochemical, etc.) and included papers published within December 2013. One hundred and eighty-three relevant articles published between 1987 and 2013 were identified; we observed a significantly increasing trend in the number of publications pertaining to GDM. A majority of the articles focused on the medical (59.9%), biochemical, and genetics and molecular biological (29.6%) aspects of the disease. The genes coding for transcription factor 7-like 2 and glucokinase (TCF7L2, 29% and GCK, 28%) were predominantly studied and reported. This study helped quantify the growth in research pertaining to GDM; researchers from the USA have published a majority of the publications related to GDM. Several candidate genes have been linked to diabetes; however, the specific gene locus responsible for GDM has not yet been identified. The results of this study could help determine the orientation of future research on genetic factors associated with GDM.


Assuntos
Diabetes Gestacional/genética , Publicações/estatística & dados numéricos , Estudos de Casos e Controles , Diabetes Mellitus Tipo 2/genética , Feminino , Predisposição Genética para Doença , Humanos , Polimorfismo de Nucleotídeo Único , Gravidez
10.
Genet Mol Res ; 14(4): 14660-9, 2015 Nov 19.
Artigo em Inglês | MEDLINE | ID: mdl-26600526

RESUMO

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.


Assuntos
Proteína do X Frágil da Deficiência Intelectual/genética , Síndrome do Cromossomo X Frágil/diagnóstico , Síndrome do Cromossomo X Frágil/genética , Patologia Molecular/métodos , Alelos , Eletroforese em Gel de Poliacrilamida , Feminino , Síndrome do Cromossomo X Frágil/patologia , Humanos , Masculino , Mutação , Reação em Cadeia da Polimerase/métodos , Expansão das Repetições de Trinucleotídeos/genética
11.
Genet Mol Res ; 14(1): 1692-9, 2015 Mar 06.
Artigo em Inglês | MEDLINE | ID: mdl-25867311

RESUMO

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.


Assuntos
Transtornos Cromossômicos/diagnóstico , Brasil , Deleção Cromossômica , Transtornos Cromossômicos/genética , Cromossomos Humanos Par 13/genética , Feminino , Humanos , Hibridização in Situ Fluorescente , Lactente , Interfase , Cariotipagem , Fenótipo , Cromossomos em Anel
12.
Dentomaxillofac Radiol ; 44(5): 20140360, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-25629721

RESUMO

OBJECTIVES: This study aimed to assess how details on dental restorative composites with different radio-opacities are perceived under the influence of ambient light. METHODS: Resin composite step wedges (six steps, each 1-mm thick) were custom manufactured from three materials, respectively: (M1) Filtek™ Z350 (3M/ESPE, Saint Paul, MN); (M2) Prisma AP.H™ (Dentsply International Inc., Brazil) and (M3) Glacier(®) (SDI Limited, Victoria, Australia). Each step of the manufactured wedge received three standardized drillings of different diameters and depths. An aluminium (Al) step wedge with 12 steps (1-mm thick) was used as an internal standard to calculate the radio-opacity as pixel intensity values. Standardized digital images of the set were obtained, and 11 observers independently recorded the images, noting the number of noticeable details (drillings) under 2 dissimilar conditions: in a light environment (light was turned on in the room) and in low-light conditions (light in the room was turned off). The differences between images in terms of the number of details that were observed were statistically compared using ANOVA, Cronbach's alpha coefficient and Wilcoxon and Kruskal-Wallis tests, with a significance level setting of 5% (α = 0.05). RESULTS: The M2 showed higher radio-opacity, the M1 displayed intermediate radio-opacity and the M3 showed lower radio-opacity, respectively; however, all three were without significance (p > 0.05) compared with each other. The differences in radio-opacity resulted in a significant variation (p < 0.05) in the number of noticeable details in the image, which were influenced by characteristics of details, in addition to the ambient-light level. CONCLUSIONS: The radio-opacity of materials and ambient light can affect the perception of details in digital radiographic images.


Assuntos
Resinas Compostas , Luz , Radiografia Dentária Digital , Alumínio , Desenho de Equipamento , Imagens de Fantasmas , Cimentos de Resina
13.
Environ Sci Pollut Res Int ; 22(5): 3947-54, 2015 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-25300186

RESUMO

The aim of the study was to use the comet assay (single-cell gel electrophoresis) and micronucleus test to assess the extent of genomic damage in the whole blood of Dendropsophus minutus from agroecosystems with great use of agrochemicals and to compare the results to those obtained from animals living in unpolluted areas. Our results indicated that specimens of D. minutus collected in perturbed areas exhibited higher amounts of DNA damage in blood cells in comparison to animals from areas free of agricultural activities. The average and standard deviation of all comet assay parameters (tail length, percentage of DNA in the tail, and olive tail moment) and micronuclei frequency were significantly higher in specimens collected in perturbed areas than in the animals from preserved areas. Our study showed that animals from perturbed areas, such as agroecosystems, tend to have higher amounts of DNA damage than animals from reference areas. Moreover, we can conclude that D. minutus tadpoles could be included as a model organism in biomonitoring studies.


Assuntos
Anuros/genética , Dano ao DNA , Monitoramento Ambiental , Poluição Ambiental/efeitos adversos , Xenobióticos/efeitos adversos , Agricultura , Animais , Brasil , Ensaio Cometa , Monitoramento Ambiental/métodos , Genômica , Testes para Micronúcleos
14.
Genet Mol Res ; 14(4): 17828-33, 2015 Dec 22.
Artigo em Inglês | MEDLINE | ID: mdl-26782428

RESUMO

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.


Assuntos
Periodontite Crônica/genética , Estudos de Associação Genética , Predisposição Genética para Doença , Interleucina-10/genética , Adulto , Alelos , Brasil , Periodontite Crônica/patologia , Feminino , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Doenças Periodontais , Polimorfismo de Nucleotídeo Único , Fatores de Risco
15.
Genet Mol Res ; 13(2): 3404-10, 2014 Apr 30.
Artigo em Inglês | MEDLINE | ID: mdl-24841785

RESUMO

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.


Assuntos
Cromossomos Humanos Y/genética , Variação Genética , Haplótipos/genética , Repetições de Microssatélites/genética , Brasil , Frequência do Gene , Genética Populacional/métodos , Humanos , Masculino , Paternidade
16.
Oper Dent ; 39(1): 90-7, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-23713807

RESUMO

This study aimed to objectively evaluate the radiopacity of different dental composites and their subjective influence on diagnosing secondary caries-like lesions and how these results correlate. For objective analysis, three resin specimens (1 mm thick, with a 4-mm internal diameter) were made with four composites: 1) Charisma; 2) Filtek Z250; 3) Prisma AP.H; and 4) Glacier. Three human teeth were selected and then mesio-distally sectioned (1 mm thick) to make the dental specimens. An aluminum (Al) wedge (12 steps, 1 mm thick, 99.8% purity) was used as an internal standard to calculate the radiopacity. For subjective analysis, 20 human teeth were selected and then prepared with a mesio-occluso-distal (MOD) inlay cavity, with half the teeth receiving a round cavity to simulate the carious lesion. The MOD was restored using the composites at four different times. Standardized radiographs were acquired and then digitized (300 dpi and eight-bit TIFF) for both analyses. A histogram objectively measured the pixel intensity values of the images, which were converted into millimeters of Al using linear regressions. Eight observers subjectively evaluated the images using a five-point rating scale to diagnose the caries. The data were statistically analyzed using the Student t-test, the Kappa test, diagnostic testing, and the Pearson correlation coefficient (α=0.05). All materials showed radiopacity values compatible with dental tissues (p>0.05); Glacier was similar to dentin and Prisma AP.H was similar to enamel, while the remaining materials showed a middle radiopacity. Prisma AP.H and Glacier differed (p<0.05) in relation to their accuracy to caries diagnosis, with Glacier having greater accuracy. There was a correlation between objective and subjective analyses with negative linear dependence. An increase in the material's radiopacity could have a subjectively negative influence on the diagnosis of secondary caries; thus, an ideal radiopacity for a dental composite is closer to the dentin image and produces similar attenuation to X-rays than does dentin.


Assuntos
Resinas Compostas , Cárie Dentária/diagnóstico por imagem , Restauração Dentária Permanente , Radiografia Dentária , Humanos , Cimentos de Resina
17.
Genet Mol Res ; 12(1): 23-7, 2013 Jan 16.
Artigo em Inglês | MEDLINE | ID: mdl-23359020

RESUMO

Due to the miscegenation of the Brazilian population, the central region of Brazil was colonized by internal migration of individuals from different origins, who contributed to the genetic diversity existing in this population. The purpose of this study was to estimate population parameters based on the allele frequencies for 15 polymorphic autosomal short-tandem repeat (STR) loci present in the population of the State of Goiás in the central region of Brazil, and to compare the results with those of others from different Brazilian populations. DNA was obtained from a sample of 986 unrelated individuals by a commercial reagent kit and was quantified by spectrometry for later amplification in the thermocycler. These loci, commonly used in forensics and paternity testing, reflected Hardy-Weinberg equilibrium in this population. The D18S51 and Penta E loci had the highest number of alleles, while the observed heterozygosity reached the highest rates in FGA (0.920), D7S820 (0.870), and vWA (0.867) markers. Genetic diversity reached the highest levels in Penta E (0.906), Penta D (0.873), and D18S51 (0.860) markers, and the investigated forensic parameters showed high average values, with 93% power of discrimination, polymorphism information content of 78%, gene diversity of 79%, and observed heterozygosity of 79%. Similar to the other populations of Brazil, the population of the Midwest is derived from the admixture of 3 main parental groups: Amerindian, European, particularly Portuguese, and Africans from sub-Saharan Africa. In this context, the overall distribution of allele frequencies in the STR markers of various Brazilian populations is quite similar to the data obtained in this study.


Assuntos
Etnicidade/genética , Frequência do Gene , Loci Gênicos , Repetições de Microssatélites , Brasil , DNA/genética , Variação Genética/genética , Genética Populacional , Heterozigoto , Humanos
18.
Genet Mol Res ; 12(1): 28-36, 2013 Jan 16.
Artigo em Inglês | MEDLINE | ID: mdl-23359021

RESUMO

Healthy radio-exposed individuals who received low levels of Cesium-137 radiation during the accident that occurred in Goiânia in 1987, their families and controls were tested for the detection of t(14;18)-rearranged B cells in peripheral blood by using a highly sensitive, real-time quantitative PCR method. The chromosomal translocation t(14;18)(q32;q21) is characteristic of follicular lymphoma and is a frequent abnormality observed in other types of non-Hodgkin's lymphoma. This translocation leads to constitutive activation of the BCL2 oncogene by the enhancers of the immunoglobulin heavy-chain locus. In healthy individuals, the same translocation may also be found in a small fraction of peripheral blood lymphocytes, and positive cells might serve as an indicator for environmental exposure to carcinogens and possibly correlate with the cumulative risk of developing t(14;18)- positive non-Hodgkin's lymphoma. Twenty healthy radio-exposed individuals, 10 relatives and 10 non-exposed healthy individuals were tested for the detection of this translocation. Only 1 non-exposed individual was positive for the chromosomal translocation, and healthy radio-exposed individuals presented lower levels of cells bearing the BCL2/J(H) rearrangement when compared to the levels of the patients with follicular lymphoma before treatment. However, evaluation of more cells would be required to confirm the total absence of circulating cells bearing BCL2/J(H) rearrangement.


Assuntos
Radioisótopos de Césio/efeitos adversos , Genes bcl-2 , Liberação Nociva de Radioativos , Translocação Genética/efeitos da radiação , Adulto , Linfócitos B/efeitos da radiação , Brasil , Linhagem Celular , Cromossomos Humanos Par 14/efeitos da radiação , Cromossomos Humanos Par 18/efeitos da radiação , Exposição Ambiental/efeitos adversos , Humanos , Cadeias Pesadas de Imunoglobulinas/genética , Linfoma Folicular/etiologia , Linfoma Folicular/genética , Linfoma não Hodgkin/etiologia , Linfoma não Hodgkin/genética , Neoplasias Induzidas por Radiação/etiologia , Neoplasias Induzidas por Radiação/genética
19.
Int J Oral Maxillofac Surg ; 42(6): 771-5, 2013 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-23290566

RESUMO

The aim of this study was to determine the prevalence and characteristics of pneumatization of the glenoid fossa and articular eminence by means of cone beam computed tomography (CBCT) images. CBCT images of 658 patients (1316 joints) were evaluated to determine pneumatization in the articular eminence (PAT) and roof of the glenoid fossa (PGF). Age and gender were recorded for all patients and, for the cases of pneumatization, laterality and type (unilocular or multilocular) were noted. Its prevalence was correlated with gender, age and laterality by statistical analyses. 21.3% of individuals presented with PAT and 38.3% presented with PGF. Considering the temporomandibular joint, PAT was in 15.5% and PGF in 30.2%. Of PAT cases, 54.3% were unilateral and 45.7% bilateral; 3.4% were unilocular and 96.6% were multilocular. In the PGF cases, 42.5% were unilateral and 57.5% bilateral; 0.02% was unilocular and 99.8% were multilocular. There was no statistical difference regarding gender and age; but there was statistical difference regarding laterality, with higher frequency on the left side. In conclusion, there was a significant prevalence of PAT and PGF in the studied population; their prevalence seems higher than has been previously supposed.


Assuntos
Variação Anatômica , Osso Temporal/anatomia & histologia , Osso Temporal/diagnóstico por imagem , Articulação Temporomandibular/anatomia & histologia , Articulação Temporomandibular/diagnóstico por imagem , Adolescente , Adulto , Distribuição por Idade , Idoso , Idoso de 80 Anos ou mais , Ar , Distribuição de Qui-Quadrado , Criança , Tomografia Computadorizada de Feixe Cônico , Feminino , Humanos , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Distribuição por Sexo , Fatores Sexuais , Adulto Jovem
20.
Dentomaxillofac Radiol ; 41(4): 316-22, 2012 May.
Artigo em Inglês | MEDLINE | ID: mdl-22517997

RESUMO

OBJECTIVE: The aim of the present study was to describe the clinical and MRI findings of the temporomandibular joint (TMJ) in patients with major depressive disorders (MDDs) of the non-psychotic type. METHODS: 40 patients (80 TMJs) who were diagnosed as having MDDs were selected for this study. The clinical examination of the TMJs was conducted according to the research diagnostic criteria and temporomandibular disorders (TMDs). The MRIs were obtained bilaterally in each patient with axial, parasagittal and paracoronal sections within a real-time dynamic sequence. Two trained oral radiologists assessed all images. For statistical analyses, Fisher's exact test and χ(2) test were applied (α = 0.05). RESULTS: Migraine was reported in 52.5% of subjects. Considering disc position, statistically significant differences between opening patterns with and without alteration (p = 0.00) and between present and absent joint noises (p = 0.00) were found. Regarding muscular pain, patients with and without abnormalities in disc function and patients with and without abnormalities in disc position were not statistically significant (p = 0.42 and p = 0.40, respectively). Significant differences between mandibular pathway with and without abnormalities (p = 0.00) and between present and absent joint noises (p = 0.00) were observed. CONCLUSION: Based on the preliminary results observed by clinical and MRI examination of the TMJ, no direct relationship could be determined between MDDs and TMDs.


Assuntos
Transtorno Depressivo Maior/complicações , Imageamento por Ressonância Magnética/métodos , Articulação Temporomandibular/patologia , Adulto , Bruxismo/complicações , Distribuição de Qui-Quadrado , Dor Facial/complicações , Feminino , Humanos , Masculino , Côndilo Mandibular/patologia , Transtornos de Enxaqueca/complicações , Disco da Articulação Temporomandibular/patologia , Transtornos da Articulação Temporomandibular/diagnóstico
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