title: A single amino acid change A91V in perforin: a novel, frequent predisposing factor to childhood acute lymphoblastic leukemia?
abstract: We screened 100 children with acute lymphoblastic leukemia (ALL) to assess the incidence of single amino acid change A91V in perforin. Heterozygous A91V was found in 12/100 patients and 5/127 controls (OR, 3.4; 95%CI: 1.15-9.95; p=0.014). A91V is a novel and frequent predisposing factor for childhood ALL.
authors.forename: Alessandra
authors.initials: A
authors.lastname: Santoro
authors.forename: Sonia
authors.initials: S
authors.lastname: Cannella
authors.forename: Antonino
authors.initials: A
authors.lastname: Trizzino
authors.forename: Luca
authors.initials: L
authors.lastname: Lo Nigro
authors.forename: Giovanni
authors.initials: G
authors.lastname: Corsello
authors.forename: Maurizio
authors.initials: M
authors.lastname: Aricò
mesh_terms: D000293:Adolescent; D019943:Amino Acid Substitution; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D015994:Incidence; D007223:Infant; D007231:Infant, Newborn; D051359:Lymphohistiocytosis, Hemophagocytic / Q000235:genetics; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D020125:Mutation, Missense; D054353:Perforin; D020641:Polymorphism, Single Nucleotide; D052899:Pore Forming Cytotoxic Proteins / Q000235:genetics*; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics*
chemical_list: D004273:DNA, Neoplasm; D008562:Membrane Glycoproteins; D052899:Pore Forming Cytotoxic Proteins; D054353:Perforin