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1.
An. acad. bras. ciênc ; 90(1): 509-519, Mar. 2018. tab, graf
Artigo em Inglês | LILACS | ID: biblio-886905

RESUMO

ABSTRACT Saccharum spontaneum has been used for the development of energy cane a crop aimed to be used for the production of second-generation ethanol, or lignocellulosic ethanol. Lignin is a main challenge in the conversion of cell wall sugars into ethanol. In our studies to isolate the genes the lignin biosynthesis in S. spontaneum we have had great difficulty in RT-PCR reactions. Thus, we evaluated the effectiveness of different additives in the amplification of these genes. While COMT and CCoAOMT genes did not need any additives for other genes there was no amplification (HCT, F5H, 4CL and CCR) or the yield was very low (CAD and C4H). The application of supplementary cDNA was enough to overcome the non-specificity and low yield for C4H and C3H, while the addition of 0.04% BSA + 2% formamide was effective to amplify 4CL, CCR, F5H and CCR. HCT was amplified only by addition of 0.04% BSA + 2% formamide + 0.1 M trehalose and amplification of PAL was possible with addition of 2% of DMSO. Besides optimization of expression assays, the results show that additives can act independently or synergistically.


Assuntos
Regulação da Expressão Gênica de Plantas/genética , Reação em Cadeia da Polimerase Via Transcriptase Reversa/métodos , Técnicas de Amplificação de Ácido Nucleico/métodos , Saccharum/genética , Parede Celular/genética , Primers do DNA , Etanol , Lignina/biossíntese , Lignina/genética , Metiltransferases/genética
2.
Mem. Inst. Oswaldo Cruz ; 110(8): 1003-1009, Dec. 2015. tab, graf
Artigo em Inglês | LILACS | ID: lil-769825

RESUMO

An investigation was carried out into the genetic mechanisms responsible for multidrug resistance in nine carbapenem-resistant Pseudomonas aeruginosaisolates from different hospitals in Recife, Brazil. Susceptibility to antimicrobial agents was determined by broth microdilution. Polymerase chain reaction (PCR) was employed to detect the presence of genes encoding β-lactamases, aminoglycoside-modifying enzymes (AMEs), 16S rRNA methylases, integron-related genes and OprD. Expression of genes coding for efflux pumps and AmpC cephalosporinase were assessed by quantitative PCR. The outer membrane proteins were separated by sodium dodecyl sulfate-polyacrylamide gel electrophoresis. The blaSPM-1, blaKPC-2 and blaGES-1 genes were detected in P. aeruginosaisolates in addition to different AME genes. The loss of OprD in nine isolates was mainly due to frameshift mutations, premature stop codons and point mutations. An association of loss of OprD with the overexpression of MexAB-OprM and MexXY-OprM was observed in most isolates. Hyper-production of AmpC was also observed in three isolates. Clonal relationship of the isolates was determined by repetitive element palindromic-PCR and multilocus sequence typing. Our results show that the loss of OprD along with overexpression of efflux pumps and β-lactamase production were responsible for the multidrug resistance in the isolates analysed.


Assuntos
Humanos , Carbapenêmicos/metabolismo , Farmacorresistência Bacteriana Múltipla/genética , Mutação , Pseudomonas aeruginosa/efeitos dos fármacos , Pseudomonas aeruginosa/genética , Resistência beta-Lactâmica/genética , beta-Lactamases/metabolismo , Aminoglicosídeos/metabolismo , Anfotericina B/análogos & derivados , Anfotericina B/metabolismo , Antifúngicos/metabolismo , Brasil , Cefalosporinase/classificação , Cefalosporinase/metabolismo , Códon sem Sentido/metabolismo , Ativação Enzimática/genética , Mutação da Fase de Leitura/genética , Regulação Bacteriana da Expressão Gênica/genética , Proteínas de Membrana Transportadoras/metabolismo , Metiltransferases/metabolismo , Nucleotidiltransferases/metabolismo , Mutação Puntual/genética , Porinas/metabolismo , Pseudomonas aeruginosa/enzimologia , Pseudomonas aeruginosa/isolamento & purificação , Sequências Repetitivas de Ácido Nucleico , beta-Lactamases/genética
3.
Rev. latinoam. enferm ; 23(2): 259-266, Feb-Apr/2015. tab, graf
Artigo em Inglês | LILACS, BDENF - Enfermagem | ID: lil-747163

RESUMO

OBJECTIVE: to assess the clinical effect of topical treatment using Ulmo honey associated with oral ascorbic acid in patients with venous ulcers. METHOD: longitudinal and descriptive quantitative study. During one year, 18 patients were assessed who were clinically diagnosed with venous ulcer in different stages, male and female, adult, with a mean injury time of 13 months. Ulmo honey was topically applied daily. The dressing was applied in accordance with the technical standard for advanced dressings, combined with the daily oral consumptions of 500 mg of ascorbic acid. The monitoring instrument is the assessment table of venous ulcers. RESULTS: full healing was achieved in 100% of the venous ulcers. No signs of complications were observed, such as allergies or infection. CONCLUSION: the proposed treatment showed excellent clinical results for the healing of venous ulcers. The honey demonstrated debriding and non-adherent properties, was easy to apply and remove and was well accepted by the users. The described results generated a research line on chronic wound treatment. .


OBJETIVO: avaliar o efeito clínico de tratamento tópico com mel de Ulmo associado à administração oral de ácido ascórbico em pacientes portadores de úlceras venosas. MÉTODO: estudo quantitativo descritivo longitudinal. Um total de 18 pacientes adultos, ambos os sexos, clinicamente diagnosticados com úlcera venosa em diferentes estágios e com duração de 13 meses em média, foram avaliados pelo período de um ano. A aplicação tópica diária de mel de Ulmo foi realizada de acordo com a norma técnica de tratamento avançado combinada com o consumo diário de 500 mg de ácido ascórbico. O instrumento usado para monitoramento foi a tabela de avaliação de úlceras venosas. RESULTADOS: cicatrização completa foi observada em 100% das úlceras venosas. Não foram observados sinais de complicação tais como alergias ou infecção. CONCLUSÃO: o tratamento proposto apresentou resultados clínicos excelentes na cicatrização das úlceras venosas. Além de favorecer o debridamento, o mel não é aderente, é fácil de aplicar e remover, e é de fácil aceitação por parte dos usuários. Os resultados descritos geraram uma linha investigativa no tratamento de feridas crônicas. .


OBJETIVO: evaluar el efecto clínico del tratamiento con miel de Ulmo tópico asociado a ácido ascórbico oral en pacientes portadores de úlceras venosas. MÉTODO: estudio cuantitativo descriptivo longitudinal. Durante el período de un año se evaluaron 18 pacientes diagnosticados clínicamente de úlcera venosa en sus diferentes estadios, de ambos sexos, adultos, con 13 meses promedio de antigüedad de la lesión. Se realizó la aplicación tópica diaria de miel de Ulmo con curación según la norma técnica de curaciones avanzadas, combinada con el consumo oral diario de 500 mg de ácido ascórbico. El instrumento de seguimiento es la tabla de valoración de úlceras venosas. RESULTADOS: se logró la cicatrización total en el 100% de las úlceras venosas. No se observaron signos de complicación, tales como alergias o infección. CONCLUSIÓN: el tratamiento propuesto mostró excelentes resultados clínicos en la cicatrización de úlceras venosas, presentando la miel propiedades debridantes, no adherentes, fácil de aplicar, remover y aceptación del usuario. Los resultados descritos generaron una línea investigativa en el tratamiento de heridas crónicas. .


Assuntos
Humanos , Feminino , Adulto , Pessoa de Meia-Idade , Idoso , Adulto Jovem , Antineoplásicos/farmacologia , Neoplasias da Mama/etiologia , Predisposição Genética para Doença , Mutação em Linhagem Germinativa/genética , Farmacogenética , Polimorfismo de Nucleotídeo Único/genética , Biomarcadores Tumorais/genética , Neoplasias da Mama/tratamento farmacológico , Neoplasias da Mama/epidemiologia , Estudos de Casos e Controles , /genética , DNA de Neoplasias/genética , Seguimentos , Estudo de Associação Genômica Ampla , Genótipo , Proteínas de Membrana Transportadoras/genética , Metiltransferases/genética , Reação em Cadeia da Polimerase , Prognóstico , Sistema de Registros , Fatores de Risco , Estados Unidos/epidemiologia
4.
Biomédica (Bogotá) ; 34(supl.1): 41-49, abr. 2014. ilus, tab
Artigo em Inglês | LILACS | ID: lil-712420

RESUMO

Introduction: Aminoglycosides like streptomycin are well-known for binding at specific regions of ribosome RNA and then acting as translation inhibitors. Nowadays, several pathogens have been detected to acquire an undefined strategy involving mutation at non structural ribosome genes like those acting as RNA methylases. rsmG is one of those genes which encodes an AdoMet-dependent methyltransferase responsible for the synthesis of m 7 G527 in the 530 loop of bacterial 16S rRNA. This loop is universally conserved, plays a key role in ribosomal accuracy, and is a target for streptomycin binding. Loss of the m 7 G527 modification confers low-level streptomycin resistance and may affect ribosomal functioning. Objectives: After taking into account genetic information indicating that some clinical isolates of human pathogens show streptomycin resistance associated with mutations at rsmG , we decided to explore new hot spots for mutation capable of impairing the RsmG in vivo function and of promoting low-level streptomycin resistance. Materials and methods: To gain insights into the molecular and genetic mechanism of acquiring this aminoglycoside resistance phenotype and the emergence of high-level streptomycin resistance in rsmG mutants, we mutated Escherichia coli rsmG and also performed a genotyping study on rpsL from several isolates showing the ability to grow at higher streptomycin concentrations than parental strains. Results: We found that the mutations at rpsL were preferentially present in these mutants, and we observed a clear synergy between rsmG and rpsL genes to induce streptomycin resistance. Conclusion: We contribute to understand a common mechanism that is probably transferable to other ribosome RNA methylase genes responsible for modifications at central sites for ribosome function.


Introducción. Los aminoglucósidos son moléculas antibióticas capaces de inhibir la síntesis de proteínas bacterianas tras su unión al ribosoma procariota. La resistencia a aminoglucósidos está clásicamente asociada a mutaciones en genes estructurales del ribosoma bacteriano; sin embargo, varios estudios recientes han demostrado, de forma recurrente, la presencia de un nuevo mecanismo dependiente de mutación que no involucra genes estructurales. El gen rsmG es uno de ellos y se caracteriza por codificar una metiltransferasa que sintetiza el nucleósido m 7 G527 localizado en el loop 530 del ribosoma bacteriano, este último caracterizado como sitio preferencial al cual se une la estreptomicina. Objetivo. Partiendo de las recientes asociaciones clínicas entre las mutaciones en el gen rsmG y la resistencia a estreptomicina, este estudio se propuso la caracterización de nuevos puntos calientes de mutación en este gen que puedan causar resistencia a estreptomicina usando Escherichia coli como modelo de estudio. Materiales y métodos. Se indagó sobre el mecanismo genético y molecular por el cual se adquiere la resistencia a estreptomicina y su transición a la resistencia a altas dosis mediante mutagénesis dirigida del gen rsmG y genotipificación del gen rpsL . Resultados. Se encontró que la mutación N39A en rsmG inactiva la proteína y se reportó un nuevo conjunto de mutaciones en rpsL que confieren resistencia a altas dosis de estreptomicina. Conclusiones. Aunque los mecanismos genéticos subyacentes permanecen sin esclarecer, se concluyó que dichos patrones secuenciales de mutación podrían tener lugar en otros genes modificadores del ARN bacteriano debido a la conservación evolutiva y al papel crítico que juegan tales modificaciones en la síntesis de proteínas.


Assuntos
Aminoglicosídeos/farmacologia , Antibacterianos/farmacologia , Farmacorresistência Bacteriana/genética , Proteínas de Escherichia coli/genética , Mutação de Sentido Incorreto , Metiltransferases/genética , Mutação Puntual , Processamento Pós-Transcricional do RNA/genética , RNA Bacteriano/metabolismo , /metabolismo , Estreptomicina/farmacologia , Sequência de Aminoácidos , Sítios de Ligação/genética , Domínio Catalítico/genética , Proteínas de Escherichia coli/química , Proteínas de Escherichia coli/metabolismo , Escherichia coli/efeitos dos fármacos , Escherichia coli/enzimologia , Metilação , Modelos Moleculares , Dados de Sequência Molecular , Metiltransferases/química , Metiltransferases/metabolismo , Filogenia , Conformação Proteica , RNA Bacteriano/genética , /genética , Proteínas Recombinantes de Fusão/genética , Proteínas Recombinantes de Fusão/metabolismo , Proteínas Ribossômicas/genética , Proteínas Ribossômicas/metabolismo , S-Adenosilmetionina/metabolismo , Alinhamento de Sequência , Análise de Sequência de DNA , Deleção de Sequência , Homologia de Sequência de Aminoácidos
6.
Rev. méd. Chile ; 140(7): 889-895, jul. 2012. ilus
Artigo em Espanhol | LILACS | ID: lil-656360

RESUMO

Background: Thiopurines (azathioprine and 6-mercaptopurine) are highly effective medications but with potential adverse effects. Thiopurine methyltransferase (TMPT) is the key enzyme in their pharmacokinetics and is genetically regulated. A low activity of TPMT is associated with myelotoxicity. The genotype and enzyme activity can vary by ethnicity. Aim: To study the activity and genotype of TPMT in a group of Chilean subjects. Material and Methods: In 200 healthy adult blood donors, TPMT activity was determined by high performance liquid chromatography (HPLC). Deficient, low, normal or high levels were defined when enzymatic activity was < 5, 6-24,25-55 and > 56 nmol/grHb/h, respectively. Genotyping of TPMT (*1, *2, *3A, *3B, *3C) was performed by PCR. Results: Seventy seven women (38.5%) and 123 men (61.5%), with an average age of 34.9 years were studied. Eighteen subjects (9%) had a low enzymatic activity, 178 (89%) had normal activity, 4 (2%) had high activity and no genotype deficient subjects were identified. The wild type genotype (*1) was found in 184 (92%) individuals and 16 (8%) were heterozygous for the variants: *2 (n = 2), *3A (n = 13) and *3C (n = 1). No homozygous subjects for these variants were identified. Wild type genotype had an increased enzymatic activity (40.8 ± 7.2 nmol/gHb/h) compared to heterozygous group (21.2 ± 3 nmol/ gHb/h; p < 0.001). Conclusions: Less than 10% of a Chilean population sample has a low enzymatic activity or allelic variants in the TPMT gene, supporting the use of thiopurines according to international recommendations.


Assuntos
Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem , Metiltransferases/genética , Chile , Grupo com Ancestrais do Continente Europeu/genética , Grupo com Ancestrais do Continente Europeu/estatística & dados numéricos , Frequência do Gene , Genótipo , Índios Sul-Americanos/genética , Índios Sul-Americanos/estatística & dados numéricos , Metiltransferases/metabolismo , Fenótipo , Reação em Cadeia da Polimerase , Polimorfismo Genético
7.
Arq. gastroenterol ; 49(2): 130-134, Apr.-June 2012. tab
Artigo em Inglês | LILACS | ID: lil-640173

RESUMO

CONTEXT: The use of thiopurine drugs such as azathioprine and 6-mercaptopurine has become quite common in the treatment of inflammatory bowel disease, transplantation and acute leukemias. Despite their effectiveness, these drugs are capable of causing drug-induced toxicity with the risk of death by myelosuppression. It is now known that these complications occur because of genetic polymorphisms of the thiopurinemethyltransferase (TPMT) enzyme, responsible for its metabolism. OBJECTIVE: To assess the prevalence of thiopurine methyltransferase polymorphisms in the population of Joinville, SC, Brazil. METHODS: We analyzed the frequency of four main allelic variants of the TPMT gene in 199 blood donors from Joinville, from February to April 2010. RESULTS: The normal allele ("wild-type") was found in 93.9% of subjects studied. TPMT variants were detected in 12 subjects (6.03%). CONCLUSIONS: From this study, it was estimated at 6% the risk of toxicity by the administration of azathioprine and 6-mercaptopurine to patients in Joinville.


CONTEXTO: A utilização de drogas tiopurinas como a azatioprina e a 6-mercaptopurina tem se tornado bastante frequente no tratamento de doenças inflamatórias intestinais, transplantes e leucemias agudas. Apesar de sua efetividade, estas drogas são capazes de causar toxicidade droga-induzida com risco de morte através de mielossupressão. Sabe-se hoje que estas complicações ocorrem em decorrência de polimorfismos genéticos da enzima tiopurina metiltransferase (TPMT), responsável por sua metabolização. OBJETIVOS: Avaliar a prevalência do polimorfismo do gene da TPMT na população de Joinville, SC. MÉTODOS: Foi analisada a frequência das quatro principais variantes alélicas do gene da TPMT em 199 doadores de sangue da cidade de Joinville, SC, no período de fevereiro a abril de 2010. RESULTADOS: O alelo normal ("selvagem") foi encontrado em 93,9% dos indivíduos estudados. Variantes da TPMT foram detectadas em 12 sujeitos (6,03%). CONCLUSÕES: A partir do presente estudo, pode-se estimar em cerca de 6% o risco de toxicidade na administração de azatioprina e 6-mercaptopurina a pacientes em Joinville.


Assuntos
Adulto , Feminino , Humanos , Masculino , /efeitos adversos , Azatioprina/efeitos adversos , Metiltransferases/genética , Polimorfismo Genético/genética , Brasil , Genótipo , Fatores de Risco
9.
Mem. Inst. Oswaldo Cruz ; 106(8): 1002-1006, Dec. 2011. graf
Artigo em Inglês | LILACS | ID: lil-610977

RESUMO

Streptococcus agalactiae isolates are more common among pregnant women, neonates and nonpregnant adults with underlying diseases compared to other demographic groups. In this study, we evaluate the genetic and phenotypic diversity in S. agalactiae strains from Rio de Janeiro (RJ) that were isolated from asymptomatic carriers. We analysed these S. agalactiae strains using pulsed-field gel electrophoresis (PFGE), serotyping and antimicrobial susceptibility testing, as well as by determining the macrolide resistance phenotype, and detecting the presence of the ermA/B, mefA/E and lnuB genes. The serotypes Ia, II, III and V were the most prevalent serotypes observed. The 60 strains analysed were susceptible to penicillin, vancomycin and levofloxacin. Resistance to clindamycin, chloramphenicol, erythromycin, rifampin and tetracycline was observed. Among the erythromycin and/or clindamycin resistant strains, the ermA, ermB and mefA/E genes were detected and the constitutive macrolides, lincosamides and streptogramin B-type resistance was the most prevalent phenotype observed. The lnuB gene was not detected in any of the strains studied. We found 56 PFGE electrophoretic profiles and only 22 of them were allocated in polymorphism patterns. This work presents data on the genetic diversity and prevalent capsular serotypes among RJ isolates. Approximately 85 percent of these strains came from pregnant women; therefore, these data may be helpful in developing future prophylaxis and treatment strategies for neonatal syndromes in RJ.


Assuntos
Adulto , Feminino , Humanos , Gravidez , Proteínas de Bactérias/genética , Variação Genética/genética , Streptococcus agalactiae/genética , Antibacterianos/farmacologia , Portador Sadio , Eletroforese em Gel de Campo Pulsado , Genótipo , Testes de Sensibilidade Microbiana , Proteínas de Membrana/genética , Metiltransferases/genética , Fenótipo , Sorotipagem , Streptococcus agalactiae/efeitos dos fármacos , Streptococcus agalactiae/isolamento & purificação
10.
Rev. méd. Chile ; 139(9): 1143-1149, set. 2011. ilus, tab
Artigo em Espanhol | LILACS | ID: lil-612237

RESUMO

Background: Macrolide and lincosamide resistance in Streptococcus pyogenes is due to the acquisition of mef, ermB and ermA genes, which confer different resistance phenotypes, namely M, MLSBconstitutive and MLSBinducible respectively. The last report of resistance in Chile was done in the period 1990-1998, in which resistance to macrolides was 5.4 percent, with M phenotype as the predominant one. Aim: To characterize the evolution of erythromycin and clindamycin resistance and their associated genes in S. pyogenes strains isolated from patients with invasive and non-invasive infections in the period 1996 to 2005. Material and Methods: Resistance to erythromycin and clindamycin was determined in 1,282 clinical isolates using the disk diffusion test. Resistant isolates were analyzed by polymerase chain reaction (PCR) for the presence of the above mentioned resistance genes. Results: Global resistance to erythromycin and clindamycin was 3.5 and 0.7 percent respectively. Eighty percent of the resistant strains possessed the M. phenotype. Conclusions: Resistance levels of S. pyogenes have decreased in Chile in the last years. Most resistant strains have M phenotype in contrast to many countries in which the MLSB constitutive phenotype is the predominant one.


Assuntos
Humanos , Antibacterianos/farmacologia , Clindamicina/farmacologia , Farmacorresistência Bacteriana/genética , Eritromicina/farmacologia , Faringite/microbiologia , Infecções Estreptocócicas/microbiologia , Streptococcus pyogenes/efeitos dos fármacos , Proteínas de Bactérias/genética , Chile/epidemiologia , Farmacorresistência Bacteriana/efeitos dos fármacos , Genótipo , Proteínas de Membrana/genética , Metiltransferases/genética , Fenótipo , Distribuição de Poisson , Faringite/tratamento farmacológico , Infecções Estreptocócicas/tratamento farmacológico , Streptococcus pyogenes/genética
11.
Rev. argent. microbiol ; 41(1): 29-33, ene.-mar. 2009. ilus, tab
Artigo em Inglês | LILACS | ID: lil-634614

RESUMO

During the period 1993-2001, a total of 1,499 pneumococci isolates were recovered through the Argentinean surveillance of Streptococcus pneumoniae causing invasive disease in children under 6 years of age, 3.5% of which were erythromycin resistant. Among the 50 erythromycin-resistant strains available, 58% (n=29) harbored mefA/E genes (15 mefA, 30%; and 14 mefE, 28%), 34% (n=17) ermB, and 6% (n=3) both mefA/E plus ermB genes, while one isolate was negative for all the acquired genes studied. The England14-9 (42%), Poland6B-20 (20%) and Spain9v-3 (16%) clones were responsible for the emergence of pneumococcal macrolide resistance in pediatric population from Argentina.


En el marco del programa de vigilancia regional SIREVA, se analizaron 1499 aislamientos de Streptococcus pneumoniae causantes de enfermedad invasiva en menores de 6 años, recuperados entre 1993 y 2001. Se detectó un 3,5% de resistencia a eritromicina. De los 50 aislamientos resistentes a eritromicina que pudieron ser estudiados, el 58% (n=29) tenían los genes mefA/E (15 mefA, 30% y 14 mefE, 28%), el 34% (n=17) el gen ermB y el 6% (n=3) la combinación de genes mefA/E y ermB. Sólo un aislamiento fue negativo para todos los genes analizados. Los clones internacionales England14-9, Poland6B-20 y Spain9v-3 representaron el 78% del total de aislamientos resistentes (42, 20 y 16%, respectivamente) y se consideraron los responsables de la emergencia de la resistencia a macrólidos entre los neumococos que afectan a la población pediátrica de Argentina.


Assuntos
Criança , Pré-Escolar , Humanos , Lactente , Proteínas de Bactérias/genética , Farmacorresistência Bacteriana/genética , Eritromicina/farmacologia , Genes Bacterianos , Proteínas de Membrana/genética , Metiltransferases/genética , Infecções Estreptocócicas/microbiologia , Streptococcus pneumoniae/genética , Argentina/epidemiologia , Células Clonais , Infecções Estreptocócicas/epidemiologia , Streptococcus pneumoniae/efeitos dos fármacos , Streptococcus pneumoniae/isolamento & purificação
12.
Rev. méd. Chile ; 137(2): 185-192, feb. 2009. ilus, tab
Artigo em Espanhol | LILACS | ID: lil-516082

RESUMO

Background: Thiopurine S- methyltransferase (TPMT) is a cytosolic enzyme that catalyzes the S-methylation of 6-mercaptopurine and azathioprine. Lowactivity phenotypes are correlated with polymorphism in the TPMT gene. Patients with low or undetectable TMPT activity could develop severe myelosuppression when they are treated with standard doses of thiopurine drugs. Since ethnic differences in the TPMT gen polymorphism have been demonstrated worldwide, its assessment in the Chilean population is worthwhile. Aim: To investigate the TMPT gene polymorphism in a Chilean blood donor individuals. Subjects and Methods: The frequency of four allelic variants of the TPMT gene, *2 (G238C), *3A (G460A and A719G), *3B (G460A) and *3C (A719G) were analyzed in 210 Chilean blood donors, using polymerase chain reaction (PCR), restriction fragment length polymorphism (RFLP) and allele-specific PCR-based assays. Results: TPMT variants associated to low enzymatic activity, were detected in 16 subjects (8%), who had a heterozygous genotype (*3A in 12; *3C in three and *2 in one subject). No TPMT*3B allelic variant was found. The normal allele (wild-type) was found in 92% of studied individuals. Conclusions: The allele TPMT*3A, is the most prevalent in this group of Chilean blood donors, as in Caucasian populations.


Assuntos
Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem , Doadores de Sangue , Frequência do Gene , Metiltransferases/genética , Polimorfismo Genético , Alelos , Chile/etnologia , Heterogeneidade Genética , Marcadores Genéticos , Heterozigoto , Metiltransferases/análise , Fenótipo , Adulto Jovem
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