p53 protein is encoded by a tumor-suppressor gene located on the short arm of chromosome 17. We looked for mutations or rearrangements of the p53 gene in five patients with acute transformation of a chronic myeloproliferative disorder and cytogenetic anomalies involving the short arm of chromosome 17. Two patients had a isochromosome i(17q); three more patients showed the presence of unbalanced translocations involving chromosome 17. One of these patients had a single base pair deletion, causing a frameshift mutation, in the exon 5 of the p53 gene. The karyotype of this patient showed a translocation t(5;17)(q11;p11), with loss of a normal homologue of both chromosomes 5 and 17. In all other cases the configuration of the p53 gene, as tested by PCR-SSCP analysis of exons 5 to 9 and Southern blot, was normal. Our data suggest that mutations of the p53 gene occur in a minority of hemopoietic malignancies characterized by monosomy for the short arm of chromosome 17. However, the unbalanced translocation t(5q;17p) could be a chromosomal abnormality specifically associated with loss of function of the p53 gene.

Analysis of the p53 gene in myeloid malignancies associated with chromosomal abnormalities involving the short arm of chromosome 17.

SERRA, Anna;GUERRASIO, Angelo;SAGLIO, Giuseppe
1994-01-01

Abstract

p53 protein is encoded by a tumor-suppressor gene located on the short arm of chromosome 17. We looked for mutations or rearrangements of the p53 gene in five patients with acute transformation of a chronic myeloproliferative disorder and cytogenetic anomalies involving the short arm of chromosome 17. Two patients had a isochromosome i(17q); three more patients showed the presence of unbalanced translocations involving chromosome 17. One of these patients had a single base pair deletion, causing a frameshift mutation, in the exon 5 of the p53 gene. The karyotype of this patient showed a translocation t(5;17)(q11;p11), with loss of a normal homologue of both chromosomes 5 and 17. In all other cases the configuration of the p53 gene, as tested by PCR-SSCP analysis of exons 5 to 9 and Southern blot, was normal. Our data suggest that mutations of the p53 gene occur in a minority of hemopoietic malignancies characterized by monosomy for the short arm of chromosome 17. However, the unbalanced translocation t(5q;17p) could be a chromosomal abnormality specifically associated with loss of function of the p53 gene.
1994
8 Suppl 1
S23
S26
REGE-CAMBRIN G ;GAIDANO G ;SERRA A ;SCARAVAGLIO P ;GUGLIELMELLI T ;GUERRASIO A ;GIOVINAZZO B ;SAGLIO G
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2318/35002
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