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Navegando ICB - Instituto de Ciências Biológicas por Por Orientador "Bicudo, Lucilene Arilho Ribeiro"
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Item Análise mutacional dos genes IRF6 e GRHL3 em indivíduos portadores de fissuras de lábio e/ou palato não sindrômicas(Universidade Federal de Goiás, 2016-10-26) Maranhão, Betânia Severino da Silva; Arruda, Jalsi Tacon; http://lattes.cnpq.br/2625735490014592; Bicudo, Lucilene Arilho Ribeiro; http://lattes.cnpq.br/6837561883041187; Bicudo, Lucilene Arilho Ribeiro; http://lattes.cnpq.br/6837561883041187; Bérgamo, Nádia Aparecida; Araujo, Juliana Forte Mazzeu deCleft lip and / or palate are birth defects easily recognizable and widely incidents in the human population. The clefts have a complex etiology involving genetic and environmental factors. They are found in approximately 1 in 700 births and have substantial impact on people's lives. Require always, surgery, dental, speech therapy, psychological and cosmetic. Clefts are recognized as a result of a wide rate of developmental disorders. Approximately 2/3 of the cases are not associated with any other abnormality and are called "non syndromic." The etiology of non syndromic oral clefts remains unknown. Preliminary studies suggest the involvement of a variety of genes and / or loci and environmental factors seem to play an important role in the genesis of such cases. Advances in molecular and quantitative analysis provide new opportunities to identify genes and gene-environment interactions relevant to the etiology of this common defect and representative birth. In this study, we analyzed a set of 80 cases of cleft lip and / or palate of non syndromic cases of patients of Associação de Combate as Deformidades Faciais (REFACE), collecting epidemiological and clinical data and biological sample for DNA extraction. The analysis was performed by Multiplex Ligation-dependent Probe Amplification (MLPA) of IRF6 and GRHL3 genes. This study finds only one individual with a duplication of a genomic region of the gene GRHL3, emphasizing the necessity of a larger sample and different geographical regions.Item Caracterização genético/clínica de pacientes com suspeita da síndrome de Williams-Beuren (SWB) no centro- oeste brasileiro(Universidade Federal de Goiás, 2019-08-27) Oliveira, Fernanda Ramos Barbosa de; Gamba, Bruno Faulin; http://lattes.cnpq.br/5860098764942123; Bicudo, Lucilene Arilho Ribeiro; http://lattes.cnpq.br/6837561883041187; Bicudo, Lucilene Arilho Ribeiro; Bérgamo, Nádia Aparecida; Silva, Daniela de Melo eWilliams-Beuren syndrome (WBS) is due to a hemizygous deletion of approximately 1.5Mb to 1.8Mb in the region of chromosome 7 (7q11.23) and causes a disease of rare and multisystem genetic profile. Typical faces, congenital heart disease, connective tissue disorders combined with learning deficit and differentiated growth, personality and cognitive profile make up the set of clinical signs that characterize SWB. Genetic etiology comprises a region of 28 single copy genes, linked to two repetitive regions (LCR - Low Copy Repeats). Molecular cytogenetic testing (fluorescent in situ hybridization or FISH) is used as the gold standard to confirm deletion of a copy of the elastin gene. Occasionally, inherited transmission to offspring is observed in an autosomal dominant manner, but there are a large number of cases due to sporadic mutations. This study included 15 patients with clinical diagnosis of WBS belonging to the WBS Goiana Association (AGSW). The clinical evaluation showed that 13 individuals (86%) had clinical characteristics for performing FISH and 2 patients (13%) did not have enough physical symptoms, fitting a dubious diagnosis for WBS. FISH demonstrated 13 patients with deletion in the elastin gene and 2 patients without this deletion, so there was agreement between the indicative clinical profile for the cytogenetic test and a positive FISH. For patients with negative FISH, we applied the technique of arrayCGH and conventional banding, which also showed no change. The present study allowed us to investigate the clinical characteristics of Brazilian Midwest patients with suspected WBS associated or not with a positive diagnosis by FISH or arrayCGH, as well as to establish the frequency of clinical signs of the syndrome. In addition, our study allowed specific coupling of newer genomic techniques with more traditional research methods, increasing the genetic understanding involved in WBS.Item Estudo genético em casais com histórico de perdas fetais recorrentes(Universidade Federal de Goiás, 2021-09-28) Sestari, Sheila Janaina; Bérgamo, Nádia Aparecida; http://lattes.cnpq.br/2282798263482973; Bicudo, Lucilene Arilho Ribeiro; http://lattes.cnpq.br/6837561883041187; Bicudo, Lucilene Arilho Ribeiro; Gamba, Bruno Faulin; Castro, Eduardo Camelo de; Lacerda, Elisangela de Paula Silveira; Bicudo, Lucilene Arilho RibeiroRecurrent miscarriage is defined as the loss of two or more consecutive pregnancies at a gestational age of less than 20-22 weeks. It is a problem of extensive research in reproductive health and affects about 5% of couples who want pregnancy. Its etiology is complex and associated with several factors, such as genetic, endocrine, anatomical, immunological, thrombophilic, viral and bacterial infections, environmental, among others. Parental genetic causes account for a considerable proportion, especially in first trimester pregnancy losses. The aim of this study was to perform genetic analysis in couples with recurrent miscarriage in search of an association with pregnancy losses. In the cytogenetic analysis, we identified a frequency of 2.5% of structural chromosomal abnormalities (inversion and translocation) and about 17.5% of heteromorphisms. In the analysis of the C677T and A1298C polymorphisms of the MTHFR gene and I/D of the ACE gene, no significant association was identified regarding the increased risk of recurrent miscarriage in any of the evaluated polymorphisms. Regarding copy number variants (CNVs), the literature review identified 16 CNVS in 10 different chromosomes, all with potential risk for pregnancy maintenance. Thus, the positive findings for genetic alterations in this study support its association with recurrent miscarriage, as well as the importance of these analyzes for an assertive medical conduct and carrying out genetic counseling.Item Caracterização clínica e análise genética em pacientes com deficiência intelectual indeterminada, de uma instituição de internação crônica em Trindade-Goiás(Universidade Federal de Goiás, 2019-01-29) Torres, Vinicius Montenegro; Bérgamo, Nádia Aparecida; http://lattes.cnpq.br/2282798263482973; Bicudo, Lucilene Arilho Ribeiro; http://lattes.cnpq.br/6837561883041187; Bicudo, Lucilene Arilho Ribeiro; Saddi, Vera Aparecida; Mazzeu, Juliana Forte; Gamba, Bruno Faulin; Silva, Daniela de Melo eID is a clinical manifestation that has heterogeneous and complex aetiology and 50% of it have no definite cause. In 48 patients institutionalized with Intellectual Disability (ID) and under 25 years of age, a detailed clinical, laboratory and radiological evaluation was performed. After this investigation, 27 individuals were classified as having undetermined ID and submitted to karyotype, MLPA of ID implicated subtelomeric regions, chromosomal microarray analysis and, when justified, PCR for screening of X Fragile Syndrome. In the clinical evaluation, these individuals with undetermined ID presented syndromic characteristics, family recurrence, severe intensity and association with short stature and weight. When greater severity of undetermined ID was observed, a greater frequency of male patients, low BMI, Epilepsy and Physical Deficiency was identified. Hearing Deficiency, Visual Impairment and short stature showed a tendency to exhibit the same behavior. Microcephaly and Autism Spectrum Disorder, contrary to previous studies, did not present this behavior. The karyotype and MLPA exams presented normal results in all cases. Clinical evaluation and molecular examination of relatives suggested that a patient had Spinocerebellar Ataxia Type 7. PCR screening for X Fragile Syndrome detected an affected individual. Twenty-three cases underwent chromosomal microarray analysis and seven pathogenic CNVs (30.43%) were detected. Microdeletions, microduplications and complex rearrangements were observed in different chromosomes and variable sizes. Rare genetic aberrations were detected and corroborated to define the phenotype associated with the subjects. Thus, obtained data indicated a strong genetic component in indeterminate ID. The current and previous studies corroborate to define chromosomal microarray analysis, the gold standard genetic test for initial evaluation in patients with undetermined ID. This technique is becoming more accessible and presents high sensitivity.