An Ava I polymorphism in the TP53 gene.
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.
Graziani
D
D
Il Department of Pathology, University of Milan School of Medicine, Via A di Rudinì 8, Milano, 20142, Italy.
Romagnoli
S
S
Cassani
B
B
Alfano
R M
RM
Roncalli
M
M
Coggi
G
G
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
D004262:DNA Restriction Enzymes