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Relationship between RAD51-G135C/XRCC3-C241T polymorphisms and development of acute myeloid leukemia with recurrent chromosome translocation / 中华血液学杂志
Chinese Journal of Hematology ; (12): 299-303, 2011.
Artigo em Chinês | WPRIM | ID: wpr-251969
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the relationship between DNA homologous recombination (HR) repair genes RAD51-G135C/XRCC3-C241T polymorphisms and development of acute myeloid leukemia (AML) with recurrent chromosome translocation.</p><p><b>METHODS</b>Genomic DNA was extracted from bone marrow cells of 625 de novo AML patients and peripheral blood cells of 806 patient family members and 704 unrelated volunteers. Genotypes of RAD51-G135C and XRCC3-C241T were analyzed by PCR-RFLP. Cell lines with genotypes differed from XRCC3-C241T were selected and irradiated in vitro. The CBFβ-MYH11 fusion gene was detected by TaqMan real-time PCR.</p><p><b>RESULTS</b>The XRCC3-C241T variant (C/T + T/T) showed 6.22-fold and 6.99-fold increase in the risk of developing the AML with inv(16)/t(16;16)/CBFβ-MYH11 as compared with the volunteer and family member controls respectively; the RAD51-G135C homozygote-type (C/C) variant showed 0.87-fold (P = 0.010) and 1.15-fold (P = 0.001) respectively increase in the risk of this subtype AML. In the irradiated group, the CBFβ-MYH11 mRNA level in HL-60 cells was 59.49 times increased than that in KG1a cells. However, the RAD51-G135C and XRCC3-C241T variants had no correlations with the risk of development of t(15;17)/PML-RARα(+)AML, t(8;21)/AML1-ETO(+) AML and 11q23 AML subtypes.</p><p><b>CONCLUSION</b>The XRCC3-C241T variant and the RAD51-G135C homozygote-type significantly increase the risk of the development of AML with inv(16)/t(16;16)/CBFβ-MYH11.</p>
Assuntos
Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Translocação Genética / Leucemia Mieloide Aguda / Estudos de Casos e Controles / Proteínas de Fusão Oncogênica / Predisposição Genética para Doença / Polimorfismo de Nucleotídeo Único / Proteínas de Ligação a DNA / Rad51 Recombinase / Genética / Genótipo Tipo de estudo: Estudo observacional / Fatores de risco Limite: Adolescente / Adulto / Idoso / Aged80 / Criança / Criança, pré-escolar / Feminino / Humanos / Masculino Idioma: Chinês Revista: Chinese Journal of Hematology Ano de publicação: 2011 Tipo de documento: Artigo

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Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Translocação Genética / Leucemia Mieloide Aguda / Estudos de Casos e Controles / Proteínas de Fusão Oncogênica / Predisposição Genética para Doença / Polimorfismo de Nucleotídeo Único / Proteínas de Ligação a DNA / Rad51 Recombinase / Genética / Genótipo Tipo de estudo: Estudo observacional / Fatores de risco Limite: Adolescente / Adulto / Idoso / Aged80 / Criança / Criança, pré-escolar / Feminino / Humanos / Masculino Idioma: Chinês Revista: Chinese Journal of Hematology Ano de publicação: 2011 Tipo de documento: Artigo