Base de dados : LILACS
Pesquisa : D13.444.735.544.355 [Categoria DeCS]
Referências encontradas : 61 [refinar]
Mostrando: 1 .. 10   no formato [Detalhado]

página 1 de 7 ir para página                  

  1 / 61 LILACS  
              next record last record
seleciona
para imprimir
Fotocópia
Id: biblio-1171772
Autor: Guerrero Elba; Lemus Dihadenys; Yzquierdo Sergio; Vílchez Glenda; Muñoz Mariana; Montoro Ernesto; Takiff Howard.
Título: Association between embB mutations and ethambutol resistance in Mycobacterium tuberculosis isolates from Cuba and the Dominican Republic: reproducible patterns and problems / Association between embB mutations and ethambutol resistance in Mycobacterium tuberculosis isolates from Cuba and the Dominican Republic: reproducible patterns and problems.
Fonte: Rev. argent. microbiol;45(1):21-6, mar. 2013.
Idioma: es.
Resumo: The relation of ethambutol resistance to embB mutations remains unclear, and there are no reports on ethambutol resistance from the caribbean. We examined the sequence of embB in 57 distinct Multi-Drug Resistant (MDR) and non-MDR strains of Mycobacterium tuberculosis, mostly from Cuba and the Dominican Republic. embB306 codon mutations were found exclusively in MDR-TB, but in both ethambutol sensitive and resistant strains. Valine substitutions predominated in ethambutol resistant strains, while isoleucine replacements were more common in sensitive strains. Three ethambutol resistant MDR strains without embB306 substitutions had replacements in embB406 or embB497, but these were also found in ethambutol sensitive MDR strains. The results confirm previous findings that amino acid substitutions in EmbB306, EmbB406 and EmbB497 are found only in MDR-TB strains but in both phenotypically resistant and sensitive strains. One ethambutol resistant non-MDR strain did not have any embB mutation suggesting that other undefined mutations can also confer ethambutol resistance.
Descritores: Antituberculosos/farmacologia
Etambutol/farmacologia
Mycobacterium tuberculosis/genética
Pentosiltransferases/genética
Resistência Microbiana a Medicamentos/genética
Tuberculose Resistente a Múltiplos Medicamentos/microbiologia
-Análise Mutacional de DNA
Cuba/epidemiologia
Códon/genética
DNA Bacteriano/genética
Farmacorresistência Bacteriana Múltipla/genética
Humanos
Mutação
Mycobacterium tuberculosis/efeitos dos fármacos
Pentosiltransferases/fisiologia
Relação Dose-Resposta a Droga
Reprodutibilidade dos Testes
República Dominicana/epidemiologia
Sensibilidade e Especificidade
Substituição de Aminoácidos
Testes de Sensibilidade Microbiana
Tuberculose Resistente a Múltiplos Medicamentos/epidemiologia
Tipo de Publ: Estudo Comparativo
Artigo de Revista
Research Support, Non-U.S. Gov't
Research Support, Non-U.S. Gov't
Research Support, Non-U.S. Gov't
Responsável: AR5.1 - Centro de Gestión del Conocimiento y las Comunicaciónes


  2 / 61 LILACS  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo SciELO Brasil
Silva, Ismael Dale Cotrim Guerreiro da
Ribalta, Julisa Chamorro Lascasas
Texto completo
Id: biblio-839224
Autor: Chuery, Ana Carolina Silva; Silva, Ismael Dale Cotrim Guerreiro da; Ribalta, Julisa Chamorro Lascasas; Speck, Neila Maria de Góis.
Título: Association between the p53 arginine/arginine homozygous genotype at codon 72 and human papillomavirus E6/E7 mRNA expression
Fonte: Braz. j. infect. dis;21(3):248-254, May-June 2017. tab.
Idioma: en.
Resumo: ABSTRACT Objective: To evaluate the association between p53 polymorphisms and human papillomavirus (HPV) E6/E7 mRNA expression. Methods: We analyzed 175 cervical samples from women aged 16-69 years old who were tested for HPV E6/E7 mRNA expression (NucliSENS® EasyQ® HPV). The samples were divided into three groups: positive (n = 75) those with positive HPV E6/E7 mRNA expression and positive high-risk HPV Hybrid Capture (HR-HC) test; negative (n = 52) those with negative HPV E6/E7 mRNA expression and positive HR-HC; and control (n = 48) those with negative HPV E6/E7 mRNA expression and negative HR-HC. The p53 polymorphisms at codons 11, 72, and 248 were evaluated through polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Results: The frequency of the arginine/arginine homozygous genotype at codon 72 was significantly higher in the positive (49.3%) than in the negative (32.7%) and control groups (20.8%, p = 0.002*). The frequency of the arginine allele was also significantly higher in the positive (67.3%) than in the negative (53.8%) and control groups (38.5%, p < 0.001*). The arginine/arginine homozygous genotype was significantly associated with positive HPV E6/E7 mRNA expression (positive group) compared with negative and control groups (odds ratio: 2.633; 95% CI, 1.399-4.954, p = 0.003). The frequency of arginine/arginine homozygous genotype at codon 72 remained significantly more frequent in the positive group of women aged ≥30 years than in the other two groups. Conclusion: The presence of the p53 arginine/arginine homozygous genotype at codon 72 was significantly associated with the positive HPV E6/E7 mRNA expression.
Descritores: Papillomaviridae/genética
RNA Mensageiro/metabolismo
Proteínas Oncogênicas Virais/genética
Neoplasia Intraepitelial Cervical/virologia
Infecções por Papillomavirus/virologia
Proteínas E7 de Papillomavirus/genética
-Arginina/genética
Polimorfismo de Fragmento de Restrição
Códon
RNA Viral
Neoplasias do Colo do Útero/virologia
Reação em Cadeia da Polimerase
Proteína Supressora de Tumor p53/genética
Genótipo
Limites: Humanos
Feminino
Adolescente
Adulto
Pessoa de Meia-Idade
Idoso
Adulto Jovem
Responsável: BR1.1 - BIREME


  3 / 61 LILACS  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo SciELO Brasil
Texto completo
Id: biblio-886631
Autor: FABRIN, THOMAZ M C; PRIOLI, SONIA MARIA A P; PRIOLI, ALBERTO JOSÉ.
Título: Long-wavelength sensitive opsin (LWS) gene variability in Neotropical cichlids (Teleostei: Cichlidae)
Fonte: An. acad. bras. ciênc;89(1):213-222, Jan,-Mar. 2017. tab, graf.
Idioma: en.
Resumo: ABSTRACT Cichlid fishes are an important group in evolutionary biology due to their fast speciation. This group depends widely of vision for feeding and reproduction. During the evolutionary process it plays a significant role in interspecific and intraspecific recognition and in its ecology. The molecular basis of vision is formed by the interaction of the protein opsin and retinal chromophore. Long-wavelength sensitive opsin (LWS) gene is the most variable among the opsin genes and it has an ecological significance. Current assay identifies interspecific variation of Neotropical cichlids that would modify the spectral properties of the LWS opsin protein and codons selected. Neotropical species present more variable sites for LWS gene than those of the African lakes species. The LWS opsin gene in Crenicichla britskii has a higher amino acid similarity when compared to that in the African species, but the variable regions do not overlap. Neotropical cichlids accumulate larger amounts of variable sites for LWS opsin gene, probably because they are spread over a wider area and submitted to a wider range of selective pressures by inhabiting mainly lotic environments. Furthermore, the codons under selection are different when compared to those of the African cichlids.
Descritores: Variação Genética
Opsinas de Bastonetes/genética
Ciclídeos/genética
-Filogenia
Especificidade da Espécie
Brasil
Códon/genética
Reação em Cadeia da Polimerase
Análise de Sequência de DNA
África
Ciclídeos/classificação
Limites: Animais
Responsável: BR1.1 - BIREME


  4 / 61 LILACS  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
Texto completo
Id: biblio-914958
Autor: Budiarto, Bugi Ratno; Azamris, Azamris; Desriani, Desriani.
Título: Modified allele-specific PCR improves HER2 Ile655Val detection by reducing genotyping errors
Fonte: Appl. cancer res;37:1-12, 2017. tab, ilus.
Idioma: en.
Resumo: Background: A reliable method to detect gene polymorphisms must be established to eliminate genotyping errors due to false PCR amplification. In the previous study, we have developed AS-PCR (Allele Specific-Polymerase Chain Reaction) to detect HER2 Ile655Val gene polymorphism with good specificity and sensitivity, yet it produces some errors. This study is aimed to eliminate the source of genotyping errors mainly by betaine treatment and PCR program modification. Methods: Genotyping errors produced by AS-PCR was qualitatively and quantitatively evaluated using two genomic DNA that each contained AA genotype and GG genotype of HER2 Gene. Betaine treatment or PCR program modification was tested to eliminate the occurrence of genotyping errors during AS-PCR amplification. Results: The types of genotyping errors exhibited by HER2 Ile655Val AS-PCR are diverse, ranging from LDO (Locus Drop Out), preferential amplification to ADO (Allele Drop Out). The rate of genotyping errors was from 10% to 50% depending on the amount and ratio of DNA template and the annealing temperature of PCR. In the mixed DNA template model, the betaine treatment has shown to reduce ADO only in preferentially amplified GG genotype amplicon. Alternatively, reducing the template of the heterozygous DNA by half ( -0.5 ng of DNA template) for such case has effectively recovered the AS-PCR from ADO. Furthermore, increasing the denaturation temperature to 96 °C with an annealing time of 40 s at the first 10 cycles of AS-PCR has succeeded in eliminating severe preferential amplification of AA genotype amplicon by preventing the DNA template with GG genotype from forming into a G-quadruplex structure. The guideline offered in this study has been successfully applied for clinical samples of breast cancer that show preferential amplification. Conclusion: Betaine and the modifying AS-PCR program can reduce significantly genotyping errors making AS-PCR for HER2 Ile655Val detection more reliable to be used as a molecular tool for genotyping purpose (AU)
Descritores: Polimorfismo Genético
Códon
Reação em Cadeia da Polimerase
Genes erbB-2
Alelos
Fator de Crescimento Epidérmico
Técnicas de Genotipagem
Limites: Feminino
Adulto
Responsável: BR30.1 - Biblioteca


  5 / 61 LILACS  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo SciELO Brasil
Texto completo
Id: biblio-894923
Autor: Freire, Caio César de Melo; Palmisano, Giuseppe; Braconi, Carla T; Cugola, Fernanda R; Russo, Fabiele B; Beltrão-Braga, Patricia CB; Iamarino, Atila; Lima Neto, Daniel Ferreira de; Sall, Amadou Alpha; Rosa-Fernandes, Livia; Larsen, Martin R; Zanotto, Paolo Marinho de Andrade.
Título: NS1 codon usage adaptation to humans in pandemic Zika virus
Fonte: Mem. Inst. Oswaldo Cruz;113(5):e170385, 2018. tab, graf.
Idioma: en.
Projeto: FAPESP; . CNPq; . FAPESP; . FAPESP; . FAPESP; . FAPESP; . FAPESP.
Resumo: BACKGROUND Zika virus (ZIKV) was recognised as a zoonotic pathogen in Africa and southeastern Asia. Human infections were infrequently reported until 2007, when the first known epidemic occurred in Micronesia. After 2013, the Asian lineage of ZIKV spread along the Pacific Islands and Americas, causing severe outbreaks with millions of human infections. The recent human infections of ZIKV were also associated with severe complications, such as an increase in cases of Guillain-Barre syndrome and the emergence of congenital Zika syndrome. OBJECTIVES To better understand the recent and rapid expansion of ZIKV, as well as the presentation of novel complications, we compared the genetic differences between the African sylvatic lineage and the Asian epidemic lineage that caused the recent massive outbreaks. FINDINGS The epidemic lineages have significant codon adaptation in NS1 gene to translate these proteins in human and Aedes aegypti mosquito cells compared to the African zoonotic lineage. Accordingly, a Brazilian epidemic isolate (ZBR) produced more NS1 protein than the MR766 African lineage (ZAF) did, as indicated by proteomic data from infections of neuron progenitor cells-derived neurospheres. Although ZBR replicated more efficiently in these cells, the differences observed in the stoichiometry of ZIKV proteins were not exclusively explained by the differences in viral replication between the lineages. MAIN CONCLUSIONS Our findings suggest that natural, silent translational selection in the second half of 20th century could have improved the fitness of Asian ZIKV lineage in human and mosquito cells.
Descritores: Proteínas não Estruturais Virais/genética
Infecção por Zika virus/epidemiologia
Infecção por Zika virus/virologia
-Brasil/epidemiologia
Códon
Genoma Viral
Responsável: BR1.1 - BIREME


  6 / 61 LILACS  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo SciELO Chile
Texto completo
Id: biblio-840318
Autor: Zhang, Xian; Wu, Dan; Yang, Taowei; Xu, Meijuan; Rao, Zhiming.
Título: Over-expression of Mycobacterium neoaurum 3-ketosteroid-∆ 1-dehydrogenase in Corynebacterium crenatum for efficient bioconversion of 4-androstene-3, 17-dione to androst-1, 4-diene-3, 17-dione
Fonte: Electron. j. biotechnol;19(6):84-90, Nov. 2016. ilus.
Idioma: en.
Projeto: High-tech Research and Development Programs of China; . National Natural Science Foundation of China; . Jiangsu Province Science Fund for Distinguished Young Scholars; . China Postdoctoral Science Foundation Funded Project; . Natural Science Foundation of Jiangsu Province; . Ministry of Education, China. Program of the Key Laboratory of Industrial Biotechnology; . Project Funded by the Priority Academic Program Development of Jiangsu Higher Education Institutions, the 111 Project.
Resumo: Background: 3-Ketosteroid-∆¹-dehydrogenase (KSDD), a flavoprotein enzyme, catalyzes the bioconversion of 4-androstene-3,17-dione (AD) to androst-1,4-diene-3,17-dione (ADD). To date, there has been no report about characterization of KSDD from Mycobacterium neoaurum strains, which were usually employed to produce AD or ADD by fermentation. Results: In this work, Corynebacterium crenatum was chosen asa new host for heterologous expression of KSDD from M. neoaurum JC-12 after codon optimization of the KSDD gene. SDS-PAGE and western blotting results indicated that the recombinant C. crenatum harboring the optimized ksdd (ksdd n) gene showed significantly improved ability to express KSDD. The expression level of KSDD was about 1.6-fold increased C. crenatum after codon optimization. After purification of the protein, we first characterized KSDD from M. neoaurum JC-12, and the results showed that the optimum temperature and pH for KSDD activity were 30°C and pH 7.0, respectively. The Km and Vmax values of purified KSDD were 8.91 µM and 6.43 mM/min. In this work, C. crenatum as a novel whole-cell catalyst was also employed and validated for bioconversion of AD to ADD. The highest transformation rate of AD to ADD by recombinant C. crenatum was about 83.87% after 10 h reaction time, which was more efficient than M. neoaurum JC-12 (only 3.56% at 10 h). Conclusions: In this work, basing on the codon optimization, overexpression, purification and characterization of KSDD, we constructed a novel system, the recombinant C. crenatum SYPA 5-5 expressing KSDD, to accumulate ADDfromADefficiently. This work provided new insights into strengthening sterol catabolism by overexpressing the key enzyme KSDD, for efficient ADD production.
Descritores: Androstadienos/metabolismo
Corynebacterium/enzimologia
Mycobacterium/enzimologia
Oxirredutases/metabolismo
-Códon
Proteínas Recombinantes
Responsável: CL1.1 - Biblioteca Central


  7 / 61 LILACS  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
Id: lil-708527
Autor: Perazzo, Florencia; Piaggio, Fernando; Krupitzki, Hugo; García, Alejandro; Avagnina, Alejandra; Elsner, Boris; Denninghoff, Valeria.
Título: Caracteres clínico-patológicos y perfil genético en el carcinoma colorrectal / Clinical-pathological features and gene profile in colorectal cancer
Fonte: Medicina (B.Aires);73(5):417-422, oct. 2013. tab.
Idioma: es.
Resumo: El cáncer colorrectal es el tercer cáncer más frecuente en hombres y el segundo más frecuente en mujeres, con una incidencia mundial aproximada de 1.2 millones de casos nuevos por año. Nuestro objetivo primario fue estudiar la relación existente entre las características clínico-histológicas en individuos con cáncer colorrectal y el estado mutacional de los codones 12 y 13 del gen KRAS (7 mutaciones validadas), con el fin de hallar un marcador histopatológico para los tumores mutados. El objetivo secundario fue determinar cuántos pacientes tenían mutaciones adicionales en los codones 15 y 61 del gen KRAS y 600 del gen BRAF que podrían modificar el fenotipo tumoral. Fueron seleccionados 60 individuos con cáncer colorrectal (30 wild-type y 30 con mutaciones validadas en los codones 12 y 13 del gen KRAS). Se amplificaron y secuenciaron del gen KRAS los exones 2 y 3, y del gen BRAF el exón 15. La información recolectada se examinó mediante un análisis descriptivo, análisis univariado y/o análisis multivariado, según correspondiese. En conclusión, no se encontró relación entre las características clínico-histológicas de los tumores de individuos con diagnóstico de cáncer colorrectal y el estado mutacional de los codones 12 y 13 del gen KRAS. No hallamos un marcador histopatológico para los tumores mutados. En pacientes con adenocarcinomas colorrectales avanzados y KRAS wild-type resulta de interés considerar el estudio del codón 600 del gen BRAF.

Colorectal cancer is the third most frequent cancer in men and the second most frequent in women, with a worldwide incidence of approximately 1.2 million new cases per year. Our primary objective was to study the relationship between clinical and histological features of individuals with colorectal cancer and the mutational status of codons 12 and 13 of the KRAS gene (7 validated mutations), in order to find a histopathological marker to mutated tumors. The secondary objective was to determine how many patients had additional mutations in codons 15 and 61 of the KRAS gene, and codon 600 of the BRAF gene, which could modify the tumor phenotype. Sixty individuals with colorectal cancer (30 wild-type subjects and 30 with validated mutations in codons 12 and 13 of the KRAS gene) were selected. Exons 2 and 3 of the KRAS gene, and exon 15 of the BRAF gene were amplified and sequenced. The data collected were reviewed by a descriptive, univariate and/or multivariate analysis, as appropriate. In conclusion, no relation was found between clinical and histological features of individuals with colorectal cancer and their mutational status for codons 12 and 13 of the KRAS gene. This suggests that those easily available data do not allow predicting the response to anti-EGFR therapy. In patients with advanced colorectal adenocarcinomas and KRAS wild-type status, further study of codon 600 of the BRAF gene could be required.
Descritores: Adenocarcinoma/genética
Códon/genética
Neoplasias Colorretais/genética
Genes ras/genética
Mutação/genética
-Adenocarcinoma/patologia
Neoplasias Colorretais/patologia
Marcadores Genéticos
Predisposição Genética para Doença
Análise Multivariada
Polimorfismo Genético
Valor Preditivo dos Testes
Limites: Adulto
Idoso
Idoso de 80 Anos ou mais
Feminino
Humanos
Masculino
Pessoa de Meia-Idade
Responsável: AR1.2 - Instituto de Investigaciónes Epidemiológicas


  8 / 61 LILACS  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo SciELO Chile
Texto completo
Id: lil-699684
Autor: Roa, Iván; Sánchez, Tamara; Majlis, Alejandro; Schalper, Kurt.
Título: Mutación del gen KRAS en el cáncer de colon y recto / KRAS gene mutation in colorectal cancer
Fonte: Rev. méd. Chile;141(9):1166-1172, set. 2013. ilus, graf, tab.
Idioma: es.
Resumo: Background: KRAS oncogene is involved in colorectal carcinogenesis in 22 to 45% of cases. Aim: To determine the frequency, types and distribution of KRAS mutations in colorectal cancer. Material and Methods: KRAS mutations studies were carried out in primary tumors and metastases of colo-rectal cancer from 56 women aged 60 ± 14 years and 53 men aged 61 ± 11 years. Formalin fixed and paraffin embedded tissue samples were evaluated using RFLP (Restriction Fragment Length Polymorphism) and direct sequencing. Results: Primary tumors were located in the colon and rectum in 82 (75.2%) and 24 cases (20%), respectively. In three cases the extraction site of the tumor sample was unknown. In 46 cases (42.2%) KRAS mutations were demonstrated. The main point mutations were located in codon 12 (80.4%), G12D (39.1%), G12V (24.2%), G12S (6.5%), G12A (4.3%); G12C (4.3%), G12R (2.1%) and 19.6% at codon 13 (G13D). No differences were demonstrated in the frequency and distribution of mutations by gender, age, primary versus metastatic tumors or tumor location. Conclusions: In this series, 42% of colorectal cancer tissue samples had KRAS mutations. Their frequency and distribution are similar to those reported in the literature, except for G12C mutation.
Descritores: Adenocarcinoma/genética
Neoplasias do Colo/genética
Proteínas Proto-Oncogênicas/genética
Neoplasias Retais/genética
Proteínas ras/genética
-Chile
Códon
Análise Mutacional de DNA
Mutação
Polimorfismo de Fragmento de Restrição
Limites: Adulto
Idoso
Feminino
Humanos
Masculino
Pessoa de Meia-Idade
Adulto Jovem
Responsável: CL1.1 - Biblioteca Central


  9 / 61 LILACS  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo SciELO Brasil
Caramelli, Paulo
Texto completo
Id: lil-679174
Autor: Arquivos de Neuro-Psiquiatria; Caramelli, Paulo.
Título: Prion protein gene in Alzheimer's disease / O gene da proteina prionica na doenca de Alzheimer
Fonte: Arq. neuropsiquiatr;71(7):419-420, July/2013.
Idioma: en.
Descritores: Doença de Alzheimer/genética
Códon/genética
Polimorfismo Genético/genética
Príons/genética
Limites: Feminino
Humanos
Masculino
Tipo de Publ: Comentário
Editorial
Responsável: BR1.1 - BIREME


  10 / 61 LILACS  
              first record previous record
seleciona
para imprimir
Fotocópia
Texto completo SciELO Brasil
Texto completo
Id: lil-679173
Autor: Arquivos de Neuro-Psiquiatria; Smid, Jerusa; Landemberger, Michele Christine; Bahia, Valeria Santoro; Martins, Vilma Regina; Nitrini, Ricardo.
Título: Codon 129 polymorphism of prion protein gene in is not a risk factor for Alzheimer's disease / Polimorfismo do codon 129 do gene da proteina prionica nao e fator de risco para doenca de Alzheimer
Fonte: Arq. neuropsiquiatr;71(7):423-427, July/2013. tab.
Idioma: en.
Projeto: FAPESP) 2009/01427-2 Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP) Process nº 2009/01427-2, Howard Hughes Medical Institute, National Institute of Translational Neuroscience (INNT) - Conselho Nacional de Desenvolvimento Científico e Tecnológico/Ministério da Ciência e Tecnologia (CNPq/MCT) and Ludwig Institute for Cancer Research.; . FAPESP).
Resumo: Interaction of prion protein and amyloid-b oligomers has been demonstrated recently. Homozygosity at prion protein gene (PRNP) codon 129 is associated with higher risk for Creutzfeldt-Jakob disease. This polymorphism has been addressed as a possible risk factor in Alzheimer disease (AD). Objective To describe the association between codon 129 polymorphisms and AD. Methods We investigated the association of codon 129 polymorphism of PRNP in 99 AD patients and 111 controls, and the association between this polymorphism and cognitive performance. Other polymorphisms of PRNP and additive effect of apolipoprotein E gene (ApoE) were evaluated. Results Codon 129 genotype distribution in AD 45.5% methionine (MM), 42.2% methionine valine (MV), 12.1% valine (VV); and 39.6% MM, 50.5% MV, 9.9% VV among controls (p>0.05). There were no differences of cognitive performance concerning codon 129. Stratification according to ApoE genotype did not reveal difference between groups. Conclusion Codon 129 polymorphism is not a risk factor for AD in Brazilian patients.

Polimorfismo do códon 129 do gene da proteína priônica não é fator de risco para doença de Alzheimer A interação entre proteína priônica e oligômeros b-amiloide foi demonstrada recentemente. Homozigose no códon 129 do gene da proteína priônica (PRNP) é fator de risco para doença de Creutzfeldt-Jakob. Este polimorfismo foi estudado como possível fator de risco para doença de Alzheimer (DA). Objetivo Estudar uma possível associação entre o polimorfismo do códon 129 e DA. Métodos Foram investigados 99 pacientes com DA e 111 controles em relação ao polimorfismo do códon 129 e sua associação com desempenho cognitivo. Foram pesquisados outros polimorfismos do PRNP e efeito aditivo do gene da apolipoproteína E (ApoE). Resultados Distribuição no códon 129: 45,5% metionina (MM), 42,2% metionina valina (MV), 12,1% valina (VV) nos pacientes com DA; e 39,6% MM, 50,5% MV, 9,9% VV, nos controles (p >0.05). Não houve diferença no desempenho cognitivo em relação ao códon 129. Estratificação pelo genótipo do ApoE não mostrou diferença entre grupos. Conclusão Polimorfismo do códon 129 não é fator de risco para DA em pacientes brasileiros.
Descritores: Doença de Alzheimer/genética
Códon/genética
Polimorfismo Genético/genética
Príons/genética
-Fatores Etários
Apolipoproteínas E/genética
Brasil
Estudos de Casos e Controles
Cognição
Frequência do Gene
Fatores de Risco
Fatores Sexuais
Limites: Idoso
Idoso de 80 Anos ou mais
Feminino
Humanos
Masculino
Tipo de Publ: Research Support, Non-U.S. Gov't
Responsável: BR1.1 - BIREME



página 1 de 7 ir para página                  
   


Refinar a pesquisa
  Base de dados : Formulário avançado   

    Pesquisar no campo  
1  
2
3
 
           



Search engine: iAH v2.6 powered by WWWISIS

BIREME/OPAS/OMS - Centro Latino-Americano e do Caribe de Informação em Ciências da Saúde