RESUMO
New methods of restriction fragment length polymorphism analysis were developed to distinguish polymorphic variants C190T, G191A, G857A, and 859Del of the NAT2 gene located close to each other.
Assuntos
Arilamina N-Acetiltransferase/genética , Polimorfismo Genético/genética , Polimorfismo de Fragmento de Restrição/genética , Genótipo , HumanosRESUMO
The incidence of 5 polymorphisms of N-acetyltransferase-2 gene was evaluated in patients with lung cancer. A803G polymorphism is a factor of lung cancer resistance in tobacco smoking Caucasians in Novosibirsk. Opposite effects of NAT2 gene polymorphisms on the risk of lung cancer are possible.
Assuntos
Arilamina N-Acetiltransferase/genética , Neoplasias Pulmonares/genética , Estudos de Casos e Controles , Feminino , Predisposição Genética para Doença , Humanos , Neoplasias Pulmonares/etiologia , Neoplasias Pulmonares/metabolismo , Masculino , Pessoa de Meia-Idade , Polimorfismo Genético , Risco , Sibéria , Fumar/efeitos adversos , Fumar/genética , Fumar/metabolismo , População BrancaRESUMO
Analysis of restriction fragment length polymorphism is proposed for detecting CYP3A43 gene c1047 > T mutation. The incidence of this mutation (CYP3A43*1B allele) was evaluated in 102 europeoid residents of West Siberia and it was found to be 12.25%.
Assuntos
Alelos , Hidrocarboneto de Aril Hidroxilases/genética , Polimorfismo Genético , Polimorfismo de Fragmento de Restrição , Adolescente , Criança , Pré-Escolar , Análise Mutacional de DNA , Feminino , Frequência do Gene , Genética Populacional , Heterozigoto , Homozigoto , Humanos , Lactente , Masculino , Sibéria , População BrancaRESUMO
Restriction analysis of the NAT2 gene was carried out in inhabitants of Novosibirsk. Polymorphism of this gene for nine known point mutations was studied in a sample of Novosibirsk residents consisting of 109 healthy Caucasians. The frequencies of these mutations did not significantly differ from the frequencies reported for Caucasian populations of other countries. In 79 patients with lung cancer, a region of the NAT2 gene that includes 29.7% of the coding sequence was analyzed for the new mutations by the RFLP analysis. No new mutations were found in this group.
Assuntos
Arilamina N-Acetiltransferase/genética , População Branca/genética , Humanos , Mutação Puntual , Polimorfismo de Fragmento de Restrição , SibériaRESUMO
RFLP-analysis was made for 30 human DNA samples. The ability of application of restriction endonucleases Acc65I and Bst2UI to find point mutation C481T in NAT2 gene has been demonstrated for the first time. Variants of these enzymes application are discussed.
Assuntos
Arilamina N-Acetiltransferase/genética , Enzimas de Restrição do DNA/química , Arilamina N-Acetiltransferase/química , Humanos , Mutação Puntual , Polimorfismo GenéticoRESUMO
Restriction fragment length polymorphism in the NAT1 gene was assayed to reveal 7 mutations (97C>T; 190C>T; 350,351G>C; 402T>C; 752A>T; D(1105); D(1025)) in 74 Europeans from West Siberia. New methods for detecting mutations 350,351G>C, 402T>C, 752A>T, D(1105), and D(1025) were proposed.
