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Rev Bras Hematol Hemoter. 2011;33(4):274-6. doi: 10.5581/1516-8484.20110076.

Analysis of the -398C/T polymorphism in the perforin gene in oncohematological patients.

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Hematology and Transfusion Medicine Department, Universidade Federal do Triângulo Mineiro - UFTM, Uberaba, MG, Brazi.



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.


The aim of this study was to investigate the presence of the -398C/T polymorphism in the perforin gene in oncohematological patients.


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% agarose gel.


The heterozygous -398C/T polymorphism was identified in 16.7% patients with acute lymphoblastic leukemia, 40% with multiple myeloma, 50% with essential thrombocythemia, 14.3% with Hodgkin's disease, 7.7% with non-Hodgkin lymphoma and 33.3% with chronic lymphocytic leukemia. The homozygous mutant allele was identified in one mulatto individual (25%) 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).


ne 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.


Hematologic neoplasms; Perforin; Polymorphism, genetic; Polymorphism, single nucleotide

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