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.
Publication types
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Letter
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Research Support, Non-U.S. Gov't
MeSH terms
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Adolescent
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Amino Acid Substitution*
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Child
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Child, Preschool
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DNA Mutational Analysis
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DNA, Neoplasm / genetics
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Female
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Genetic Predisposition to Disease
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Genetic Testing
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Genotype
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Humans
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Incidence
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Infant
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Infant, Newborn
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Lymphohistiocytosis, Hemophagocytic / genetics
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Male
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Membrane Glycoproteins / genetics*
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Mutation, Missense*
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Perforin
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Polymorphism, Single Nucleotide
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Pore Forming Cytotoxic Proteins / genetics*
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Precursor Cell Lymphoblastic Leukemia-Lymphoma / genetics*
Substances
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DNA, Neoplasm
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Membrane Glycoproteins
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Pore Forming Cytotoxic Proteins
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Perforin