Programa de Pós-graduação em Genética e Biologia Molecular
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Item Avaliação da susceptibilidade à mastite mediante análise de SNVs do promotor do gene CXCL8 em bovinos de aptidão leiteira(Universidade Federal de Goiás, 2019-03-12) Campos, Calebe Bertolino Marins de; Cruz, Alex Silva da; http://lattes.cnpq.br/5521953733966859; Cruz, Aparecido Divino da; http://lattes.cnpq.br/7868817504129985; Cruz, Aparecido Divino da; Silva, Daniela de Melo e; Amaral, Alliny das GraçasAgriculture is one of the sectors most responsible for Brazilian GDP, with 7.5% coming from livestock. Given the importance of livestock for the Brazilian economy, it is of great importance to study diseases that affect the national herds and their extrinsic and intrinsic factors. The objective of this study was to verify if there was association of clinical mastitis and subsequently of subclinical mastitis with alleles, genotypes and haplotypes found in six polymorphic sites of the promoter region of the CXCL8 gene. The animals from this study came from two herds of Goiás state, totalizing 98 animals and later the genomic sequences of interest in these animals were identified by qPCR using the KASP® kit (LGC Limited ®). In all the polymorphic sites three different genotypes were found and as in the distribution in the alleles and genotypes, four different haplotypes were identified. The alleles were found to be Hardy-Weinberg equilibrium and the loci were in linkage disequilibrium. The distribution of the animals of the animals in the positive and negative groups for clinical mastitis was different from the distribution found when the somatic cell count (SCC) of the milk was taken into account to separate the animals in the subclinical mastitis groups. No statistically significant associations were found between alleles, genotypes and haplotypes with the occurrence of clinical mastitis. However, there was a significant relationship between the GG genotype of the polymorphic site "KASP 4" (c-687) and the presence of subclinical mastitis, and the haplotype IL8-h2 had a protective effect against subclinical mastitis.Item Investigação genômica em pacientes com deficiência intelectual ou atraso global do desenvolvimento assistidos na rede pública de saúde do estado de Goiás(Universidade Federal de Goiás, 2022-02-21) D’Ávila, Ana Julia da Cunha Leite; Minasi, Lysa Bernardes; http://lattes.cnpq.br/9057708164796074; Cruz, Aparecido Divino da; http://lattes.cnpq.br/7868817504129985; Cruz, Aparecido Divino da; Silva, Claudio Carlos da; Gigonzac, Thais Cidália Vieira; Costa, Emilia Oliveira Alves; Silva, Daniela de Melo eIntellectual Disability (ID) is a complex and heterogeneous clinical condition that affects about 1 to 3% of children and adolescents worldwide, and that can be caused by a variety of environmental and/or genetic factors. There are a variety of human genetic variants already identified for ID, from small variants to larger structural variants that affect thousands to millions of nucleotides. GTG banding karyotyping and microarray chromosome analysis (CMA) are often used to identify the genetic causes of ID, especially in cases Where the clinical evaluation indicates the syndromic form of ID. The use of next generation sequencing technologies for the diagnosis of ID has made it possible to expand the detection of new mutations and new genes associated with ID. The aim of this study was to perform total exome sequencing with gene panel analysis for intellectual disability, in patients who presented karyotype without structural and/or numerical alterations and did not present pathogenic copy number variations (CNVS) in the CMA. A retrospective cohort of 369 patients of both sexes with clinical indications of DI and/or global developmental delay was evaluated in the study. Peripheral blood samples were collected to perform cytogenetic analysis and gene sequencing. GTG banding was performed for all patients following the standard protocol. CMA was performed for patients who did not present structural and/or numerical alterations in the karyotype. Genomic DNA was isolated from patients and their biological parents in order to determine the origin of the CNVs found. Cases that were not diagnosed after performing the karyotype and CMA were referred for exome sequencing with gene panel analysis for intellectual disability, which encompassed 1,252 genes. With the karyotype, it was possible to identify chromosomal alterations in 34.7% (128/369) of the patients. CMA was performed in 83 patients who had results with no alterations in karyotype (46,XX or 46,XY) with a diagnosis rate of 21.7% (18/83). Exome sequencing for target genes was performed in 19 trios of families that had negative results in previous methodologies. Gene panel analysis of exome data identified mutations in 63.1% (12/19) of cases, of which 75% (9/12) were pathogenic variants, 8.3% (1/12) probably pathogenic and in 16.7% (2/2) VUS. Of the total variants identified, 75% (9/12) were de novo mutations and 25% (3/12) had mutations inherited from healthy parents. The most prevalent variants were missense-type mutations (66.7%) followed by nonsense-type mutations 16.7%), frameshift (8.3%) and loss CNV (8.3%). With the three methodologies applied, it was possible to identify the genetic causes of ID in 42.3% (156/369) of the patients. In conclusion, our results show different methodologies that can be used for the genetic diagnosis of ID and that exome sequencing with gene panel analysis provides an efficient diagnostic strategy when combined with clinical and laboratory screening.Item Diversidade genética de hilídeos do Brasil Central(Universidade Federal de Goiás, 2012-06-26) Oliveira, Hugo Henrique Pádua de; Silva, Daniela de Melo e; Cruz, Aparecido Divino da; http://lattes.cnpq.br/7868817504129985The anurans are a group of vertebrates with wide geographical distribution that obtained highly evolutionary success, being part of a lineage descendant of early tetrapods, the first vertebrates to conquer the terrestrial environment. Anurans are divided into two suborders: Archaeobatrachia and Neobatrachia. Within the suborder Neobatrachia there is Bufonoidea superfamily, which includes the three families of higher abundance in the neotropical region: Leptodactylidae, Bufonidae and Hylidae. The aim of this study was to analyze cytogenetically species of the family Hylidae of areas of the Cerrado of Goiás, by the technique of conventional cytogenetics and by silver nitrate staining. The metaphases were obtained directly from cell suspensions of spleen, liver and bone marrow. The slides were stained with Giemsa at 8%, to determine the diploid number and chromosome morphology. The species Hypsiboas multifasciatu and Hypsiboas raniceps presented the diploid number 2n=24 and fundamental number FN=48 with positive marks for NORs in chromosomes 8 and 10 respectively. The species Hypsiboas lundii presented diploid number 2n=24 and fundamental number FN=46 due to the presence of acrocentric chromosome in pair 6. The RONs for this species were identified in pericentromeric regions of short arms of chromosome 5 and in telomeric regions of short arms of chromosome 8. Within the genus Hypsiboas, only the species Hypsiboas albopunctatus presented diploid number 2n=22 and fundamental number FN = 44, and by silver staining technique we identified the presence of NORs on the short arms of the telomeric regions of chromosome pair 8. The species Pseudis bolbodactyla presented diploid number 2n=24 and FN=46 evidenced by the acrocentric pair 4. The species Scinax similis and Scinax constrictus showed different karyotypic notations. The species Scinax similis presented karyotype 2n=24 and FN=48 with methacentric and submethacentric chromosomes. We found for the species Scinax constrictus the karyotype notation 2n=22 and FN=44. Differences in the morphology of chromosomes with respect to literature data can be explained by the different criteria used for classification of the chromosomes. The morphology of some of the chromosomes found in this study differs from their representatives described in the literature, and such differences may be explained by adopting different criteria for the classification of chromosomes.Item Evidência do aumento de desvios mendelianos mediante análise transgeracional de mutações germinativas em população exposta à radiação ionizante de Césio-137(Universidade Federal de Goiás, 2022-08-12) Oliveira, Lorraynne Guimarães; Costa, Emília Oliveira Alves; http://lattes.cnpq.br/2332660855010816; Cruz, Aparecido Divino da; http://lattes.cnpq.br/7868817504129985; Silva, Daniela de Melo e; Silva, Claudio Carlos da; Dias, Renata de Oliveira; Leito Filho, Hugo Pereira; Cruz, Aparecido Divino daOn September 13th, 1987, the largest radiological accident in urban areas occurred in Goiânia, Goiás (Brazil), resulting in human, animal, plant and environmental exposure by Cesium-137. The mutagenic effects on the germline of people exposed to ionizing radiation are of particular concern, as the risk of inherited disorders can be increased. Single Nucleotide Variants are the most common form of human genetic variation and occur in greater abundance in a non-coding region and in recent years, several technologies have been developed to identify these variants. One of these technologies is Next-Generation Sequencing, which offers greater amounts of data, shorter sequencing times and reduced costs. The objective of this work is to establish the spectrum and frequency / rate of base de novo substitutions of germ origin from the trio's new generation sequencing data, corresponding to an F1 generation child and his biological parents, accidentally exposed to high and low doses of IR of cesium-137, contributing to knowledge about the biological effects of exposure to ionizing radiation. Considering case and control, the results of 38 parents, and an offspring of 14 children born from the exposed group and 5 children from the unexposed population were included. Exposed individuals had ~39% increase in global mean DMs compared to controls. Exposed mothers had ~44% increase in global mean DMs compared to controls. The A:T>C:G mutation was the one that showed the greatest statistically significant increase in occurrence in the offspring of exposed individuals. Transition replacement rates were higher than transversions in the offspring of cases and controls, but the difference is not statistically significant. In conclusion, with the methodology and biomarkers used, it was possible to identify the origin of mutation in the parents, as well as the type of substitution and to inform which variant was mutated, it was also possible to detect the frequency of the germline mutation in DM which made it possible to retrospectively study this population exposed to IR.Item CNVs de novo no cromossomo x da prole em resposta a exposição parental a baixas doses de radiação ionizante(Universidade Federal de Goiás, 2019-03-11) Rodrigue, Lucas Henrique Nascimento Silva; Costa, Emília Oliveira Alves; http://lattes.cnpq.br/2332660855010816; Cruz, Aparecido Divino da; http://lattes.cnpq.br/7868817504129985; Cruz, Aparecido Divino da; Silva, Daniela de Melo e; Silva, Cláudio Carlos daA radiological accident occurred in Goiânia-GO in 1987, exposed hundreds of people at high and low doses of ionizing radiation. When there is this type of exposure, the cells can undergo chemical, physical and biological damage, also causing genomic damage ranging from nucleotide exchange to double-strand breaks. In order to repair such DNA damage, repair processes are activated by recombining the genome and can bring about several genomic changes, such as variations in the number of copies, which arise from mutational events and are mostly normal or disease-causing variations. to some factor (again) or inherited. This study analyzed CNVs again on the X chromosome of individuals whose one of their parents had accidental exposure to low dose 137Cs (≤ 0.2Gy). The group consisted of 8 families with at least one parent exposed, resulting in a total of 12 children born after exposure to low dose ionizing radiation and 10 families with no history of radiation exposure to make up the control group. After blood collection, chromosome analysis was performed on microarray (CMA) using GeneChip® CytoScanHDTM (Affymetrix, USA) and soon after the X chromome analysis was performed using ChAS® software followed by statistical analysis. In the exposed group, 251 CNVs were found again on the X chromosome, an increase of about 2.5x compared to the control group and CNVs gain was 4.3x higher in the exposed group (p = 0.003). When the parental origins were observed, 50% of new and validated CNVs are of maternal origin and in most families the mother was accidentally exposed to IR. However, this study allowed to observe a higher rate of genomic gains in relation to X chromosome losses in the offspring of individuals exposed to low doses of ionizing radiation. Maternal age was shown to be related to the CNV rate of loss in the offspring. However, the increase in CNVs again may be indicative that the radiation has increased the rate of DNA damage after parental exposure. In the literature there is no information on CNVs on the X chromosome of individuals exposed to radiation, making this work unprecedented.