Analise de polimorfismo do gene da amelogenina X

Orientador: Sergio Roberto Peres LineDissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Odontologia de PiracicabaResumo: O estudo visou buscar polimorfismos do gene da amelogenina X (AMGX). Para tanto, analisou 79 indivíduos do sexo feminino (158 cromossomos), de etnias diferentes, quanto à presença de variações de sítios de restrição (RFLP) em cinco segmentos intragênicos amplificados por PCR. Uma deleção de aproximadamente 700 pb foi evidenciada em uma paciente, provavelmente em região intrônica, pois não foi observada qualquer alteração fenotípica no esmalte dental. Foram detectadas duas formas variantes com relação ao padrão de restrição da enzima Rsa I no segundo intron do gene. O trabalho também reportou a extração e amplificação de DNA genômico de alta massa molecular a partir de células epiteliais em processo de descamação da mucosa bucal. O método de obtenção de DNA a partir dessas células é não-invasivo, rápido, fácil e barato, sendo especialmente indicado na coleta de DNA de crianças e pessoas relutantes em doar sangue. Além disso, não apresenta riscos de infecção e dispensa a supervisão médica, podendo ser utilizado com sucesso em amostragens populacionais de larga escala e em estudos epidemiológicosAbstract: The study aimed to search for polymorphisms of the amelogenin X (AMGX) gene. It analyzed 79 female individuaIs (158 chromosomes), from different races, as for the variations of restriction sites (RFLP) of five fragments of the AMGX amplified by PCR. A deletion of about 700 bp was observed in one of the patients, probably in an intronic region. No phenotypic alterations were noted in the dental enamel of this individual. Two variant forms were visualized with two different pattems of restriction of the enzyme Rsa I in the second intron of the gene. The number of women studied is small to precisely determine the frequency of the alleles in the population. The work also reported the extraction and amplification of genomic DNA of high molecular mass from epithelial cells of the bucal mucosa. The method using DNA obtained from these cells is easy, rapid, cheap and non-invasive, being especially indicated for DNA collection of children and people reluctant to donate blood. In addition, it does not present risks of infection and require no medical supervision. It can be successfully employed in large scale populational samplings and in epidemiological studiesMestradoMestre em Biologia e Patologia Buco-Denta

Analysis of Polymorphisms in the Lactotransferrin Gene Promoter and Dental Caries

Regarding host aspects, there has been strong evidence for a genetic component in the etiology of caries. The salivary protein lactotransferrin (LTF) exhibits antibacterial activity, but there is no study investigating the association of polymorphisms in the promoter region of LTF gene with caries. The objective of this study was firstly to search the promoter region of the human LTF gene for variations and, if existent, to investigate the association of the identified polymorphisms with dental caries in 12-year-old students. From 687 unrelated, 12-year-old, both sex students, 50 individuals were selected and divided into two groups of extreme phenotypes according to caries experience: 25 students without (DMFT = 0) and 25 with caries experience (DMFT ≥ 4). The selection of individuals with extreme phenotypes augments the chances to find gene variations which could be associated with such phenotypes. LTF gene-putative promoter region (+39 to −1143) of the selected 50 individuals was analyzed by high-resolution melting technique. Fifteen students, 8 without (DMFT = 0) and 7 with caries experience (mean DMFT = 6.28), presented deviations of the pattern curve suggestive of gene variations and were sequenced. However, no polymorphisms were identified in the putative promoter region of the LTF gene

Oral manifestations of celiac disease : a case report and review of the literature

Celiac disease is a chronic intestinal disease caused by intolerance to gluten associated with poor digestion and absorption of the majority of nutrients and vitamins, which may affect both developing dentition and oral mucosa. The aim of this study is to make a brief review of the literature about celiac disease and to report on a clinical case, showing the impact it may have on the general and oral health. A 39-year-old woman reported the presence of diarrhea, nauseas, flatulence, colic, difficulty with falling asleep, lack of appetite and loose of 18 Kg in the last two years. She also noted the appearance of symptomatic lesions in the mouth. These lesions had a mean duration of a month and occurred in any region of the oral mucosa, particularly on the tongue. Multiples ulcerations were found in the sublingual caruncula region, at the vestibular fornix and at the lingual apex. Topical treatment was instituted for the oral lesions with immediately relief of the symptoms. The diagnosis of celiac disease was established by means of medical clinical exam, biopsy of the small intestine, and by the presence of specific antibodies in the blood. The patient has been instructed to follow a gluten-free diet. Multiprofessional action with the involvement of a gastroenterologist and other health professionals, such as dentists, is important for diagnosing the disease and guiding the patient with celiac disease to achieve a good quality of life

Prevalence of dental fluorosis in Curitiba, Brazil, in the years of 2006 and 2016 / Prevalência da fluorose dental em Curitiba, Brasil, nos anos de 2006 e 2016

Objective. The objective of this study was to describe the prevalence of dental fluorosis (DF) in 12-year-old schoolchildren from Curitiba, Brazil, in the years of 2006 and 2016.Methods. Participants were randomly selected from municipal, state and private schools. Schoolchildren were randomly chosen from within the Health Districts (HD), and thus a total of 679 and 934 participated in the years of 2006 and 2016 respectively. They were examined and their DF was classified according to the modified Dean index. The data were analyzed to determine distribution and the Chi-square test was used to search for associations between the outcome (DF) and the dependent variables (gender and HD), using SPSS, version 21.0.Results. There was an overall decrease in DF cases from 27.7% to 17.0 % (OR = 1.83; 95% CI: 1.44 - 2.33) in the period analyzed. There was an increase in cases of moderate DF from 16.5% in 2006 to 20.5% in 2016 however, without statistical significance (OR = 0.76; 95% CI: 0.44 - 1.31). When the variables gender and HD were included in the bivariate analysis, they presented no significant association with the outcome (p> 0.05).Conclusions. The decrease in the prevalence of DF was significant in the period, although the values remained high, and that the dependent variables were not significantly associated with the outcome.

Analysis of the association between lactotransferrin (LTF) gene polymorphism and dental caries

OBJECTIVE: The present study evaluated the association between lactotransferrin (LTF) gene polymorphism (exon 2, A/G, Lys/Arg) and dental caries. MATERIAL AND METHODS: A convenience sample of 110 individuals, 12 years old, was divided into: group 1, 48 individuals without caries experience (DMFT=0), and group 2, 62 subjects with caries experience (DMFT>;1). DNA was obtained from a mouthwash with 3% glucose solution, followed by a scrapping of the oral mucosa. After DNA purification, polymerase chain reaction (PCR), single strand conformation polymorphism (SSCP) was performed to access the study polymorphism. The LTF A/G (Lys/Arg) polymorphism had been previously reported as located in exon 1. RESULTS: Allele 1 of the study polymorphism was associated with low DMFT index and showed a protective effect against caries experience (OR=0.16, IC=0.03-0.76, p=0.01). CONCLUSIONS: Lactotransferrin A/G (exon 2, Lys/Arg) polymorphism was associated with susceptibility to dental caries in 12-year-old students

ANÁLISE DA ASSOCIAÇÃO ENTRE POLIMORFISMOS NO GENE DO RECEPTOR DA VITAMINA D E A SUSCETIBILIDADE À DOENÇA RENAL CRÔNICA E À DOENÇA PERIODONTAL

Doença renal crônica (DRC) (ROMÃO JR, 2004) e doença periodontal (DP) (PAGE, 1997) são problemas de saúde-pública, sendo esta última negligenciada na população de renais crônicos (NAUGLE, 1998; GAVALDA, 1999; ATASSI, 2002; DURAN, 2004). Vitamina D é um hormônio que interage com o seu receptor nuclear (VDR) regulando ampla variedade de processos biológicos, que incluem metabolismo ósseo, modulação da resposta imune e a transcrição de genes envolvidos nos mecanismos básicos da DRC e da DP (HOLICK, 2004). O objetivo deste trabalho foi de investigar a associação entre polimorfismos no gene do VDR e a suscetibilidade à DRC e à DP. 222 indivíduos foram divididos em quatro grupos: 59 sem DRC e sem DP (grupo 1); 50 sem DRC e com DP (grupo 2), selecionados da Clínica Odontológica da PUCPR; 50 com DRC, em hemodiálise, sem DP (grupo 3), e 63 com DRC, em hemodiálise, e com DP (grupo 4), selecionados na Fundação Pró-Renal. Os polimorfismos Taq I e Bsm I do gene do VDR (MIYAMOTO, 1997; BRETT, 2005) foram analisados pela técnica de PCR-RFLP . O alelo G foi associado com a proteção contra a DRC. Nenhuma associação foi observada entre os polimorfismos estudados e a suscetibilidade/proteção a DP (DE BRITO JR, 2004)