Mutations of perforin gene in Chinese patients with acute lymphoblastic leukemia

Liyun Yang; Hongxing Liu; Jun Zhao; Wanming Da; Jingchen Zheng; Lixiang Wang; Gong Li; Ping Zhu

doi:10.1016/j.leukres.2010.06.016

Mutations of perforin gene in Chinese patients with acute lymphoblastic leukemia

Leuk Res. 2011 Feb;35(2):196-9. doi: 10.1016/j.leukres.2010.06.016. Epub 2010 Jul 16.

Authors

Liyun Yang¹, Hongxing Liu, Jun Zhao, Wanming Da, Jingchen Zheng, Lixiang Wang, Gong Li, Ping Zhu

Affiliation

¹ Department of Hematology, Beijing 301 Hospital, Beijing, China.

PMID: 20638125
DOI: 10.1016/j.leukres.2010.06.016

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Asian People / genetics*
Female
Genes, abl
Humans
Immunophenotyping
Karyotyping
Male
Mutation*
Perforin / genetics*
Polymerase Chain Reaction
Polymorphism, Single Nucleotide
Precursor Cell Lymphoblastic Leukemia-Lymphoma / genetics*

Substances

Perforin