Analysis of the -398C/T polymorphism in the perforin gene in oncohematological patients
Rev. bras. hematol. hemoter
;
33(4): 274-276, 2011. ilus, tab
Artigo
em Inglês
| LILACS
| ID: lil-601005
ABSTRACT
BACKGROUND:
Recently, single nucleotide polymorphisms (SNPs) were identified in the promoter region of the perforin gene (PRF1) and it was found that the -398T mutant allele is correlated with lower amounts of protein in circulating CD8+ cytotoxic T lymphocytes.OBJECTIVE:
The aim of this study was to investigate the presence of the -398C/T polymorphism in the perforin gene in oncohematological patients.Methods:
Sixty-two patients with hematological malignancies treated at the teaching hospital of the Universidade Federal do Triângulo Mineiro were invited to participate in this study. The identification of the polymorphism was achieved by amplification using polymerase chain reaction, digestion using the TaqI enzyme and electrophoresis in 1 percent agarose gel.RESULTS:
The heterozygous -398C/T polymorphism was identified in 16.7 percent patients with acute lymphoblastic leukemia, 40 percent with multiple myeloma, 50 percent with essential thrombocythemia, 14.3 percent with Hodgkin's disease, 7.7 percent with non-Hodgkin lymphoma and 33.3 percent with chronic lymphocytic leukemia. The homozygous mutant allele was identified in one mulatto individual (25 percent) with myelodysplastic syndrome. When Afro-Brazilian and Whites were analyzed together, there was a higher frequency of the -398T allele in patients than in healthy individuals (p-value = 0.0291).CONCLUSION:
One patient was homozygous for the -398T allele. Based on these findings, further studies should be conducted to assess whether the presence of this polymorphism may be a risk factor for the development of hematologic malignancies.
Texto completo:
DisponíveL
Índice:
LILACS (Américas)
Assunto principal:
Polimorfismo Genético
/
Neoplasias Hematológicas
/
Polimorfismo de Nucleotídeo Único
/
Perforina
Tipo de estudo:
Estudo prognóstico
/
Fatores de risco
Limite:
Feminino
/
Humanos
/
Masculino
Idioma:
Inglês
Revista:
Rev. bras. hematol. hemoter
Assunto da revista:
Hematologia
Ano de publicação:
2011
Tipo de documento:
Artigo
País de afiliação:
Brasil
Instituição/País de afiliação:
Universidade Federal do Triângulo Mineiro/BR
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