title: Mutations of perforin gene in Chinese patients with acute lymphoblastic leukemia.
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.
authors.affiliation: Department of Hematology, Beijing 301 Hospital, Beijing, China.
authors.forename: Liyun
authors.initials: L
authors.lastname: Yang
authors.forename: Hongxing
authors.initials: H
authors.lastname: Liu
authors.forename: Jun
authors.initials: J
authors.lastname: Zhao
authors.forename: Wanming
authors.initials: W
authors.lastname: Da
authors.forename: Jingchen
authors.initials: J
authors.lastname: Zheng
authors.forename: Lixiang
authors.initials: L
authors.lastname: Wang
authors.forename: Gong
authors.initials: G
authors.lastname: Li
authors.forename: Ping
authors.initials: P
authors.lastname: Zhu
mesh_terms: D044466:Asian People / Q000235:genetics*; D005260:Female; D016313:Genes, abl; D006801:Humans; D016130:Immunophenotyping; D007621:Karyotyping; D008297:Male; D009154:Mutation; D054353:Perforin / Q000235:genetics*; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics*
chemical_list: D054353:Perforin