title: An Ava I polymorphism in the TP53 gene.
abstract: TP53 gene plays a major role in the process of malignant transformation and tumour progression so that abnormalities such as point mutation or allelic loss of this gene are a common finding in different tumour types. Most of the mutations identified cover a conserved region of the gene, spanning from exon 4 to exon 9. The present report describes a novel polymorphism, 12 nucleotides downstream the splicing junction of exon/intron 9 identified in a cohort of 103 Italian healthy blood donors. The polymorphism results in the creation of a new restriction site for Ava I.
authors.affiliation: Il Department of Pathology, University of Milan School of Medicine, Via A di Rudinì 8, Milano, 20142, Italy.
authors.forename: D
authors.initials: D
authors.lastname: Graziani
authors.forename: S
authors.initials: S
authors.lastname: Romagnoli
authors.forename: B
authors.initials: B
authors.lastname: Cassani
authors.forename: R M
authors.initials: RM
authors.lastname: Alfano
authors.forename: M
authors.initials: M
authors.lastname: Roncalli
authors.forename: G
authors.initials: G
authors.lastname: Coggi
mesh_terms: D001782:Blood Donors; D004262:DNA Restriction Enzymes / Q000235:genetics; D005091:Exons; D005260:Female; D005787:Gene Frequency; D016158:Genes, p53 / Q000235:genetics*; D006801:Humans; D007438:Introns; D007558:Italy / Q000453:epidemiology; D008297:Male; D017354:Point Mutation; D011110:Polymorphism, Genetic / Q000235:genetics; D012150:Polymorphism, Restriction Fragment Length; D018807:Polymorphism, Single-Stranded Conformational
chemical_list: D004262:DNA Restriction Enzymes