Mutations of perforin gene in Chinese patients with acute lymphoblastic leukemia

Leukemia Research
Liyun YangPing Zhu

Abstract

To address whether mutations and single nucleotide polymorphisms (SNPs) in perforin gene (PRF1) are correlated with acute lymphoblastic leukemia (ALL) in Chinese, we screened mutations in codon region of PRF1 in 111 ALL patients, and correlated the results with patients' immunophenotype, karyotype and fusion genes. Four novel monoallelic missense and two novel monoallelic synonymous mutations (G198R, R225Q, D486G, R509K, S388S and Q540Q) were identified in 9 B-ALL, of whom 7 cases carried BCR-ABL gene, one carried MLL-AF4 fusion gene, and one lost two chromosomes. Our results suggest that mutations in PRF1 may play a role in the pathogenesis of B-ALL.

References

Sep 7, 2000·The Journal of Experimental Medicine·M J SmythJ A Trapani
Apr 29, 2003·British Journal of Haematology·Ikuyo UedaShinsaku Imashuku
Oct 2, 2004·The New England Journal of Medicine·Rita ClementiMarco Bregni
Feb 25, 2005·Blood·Rita ClementiMaria Grazia Roncarolo
Feb 22, 2007·Blood·Elena E SolomouNeal S Young
Jan 17, 2008·Diabetes·Elisabetta OrilieriUmberto Dianzani
May 23, 2008·Genes and Immunity·G CappellanoU Dianzani
Jul 30, 2008·World Journal of Pediatrics : WJP·Hua-Song ZengXiao-Ping Luo
Feb 7, 2009·Proceedings of the National Academy of Sciences of the United States of America·Paul BolithoMark J Smyth
Jun 3, 2009·Proceedings of the National Academy of Sciences of the United States of America·Jenny ChiaIlia Voskoboinik
Nov 17, 2009·Journal of Leukocyte Biology·Sabine HovesIlia Voskoboinik

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Citations

Mar 19, 2014·PloS One·Rebeca MansoMiguel Ángel Piris
Oct 2, 2019·Journal of Clinical Medicine·Ana P Gonzalez-RodriguezSegundo Gonzalez

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