Mutation spectrum of the p53 gene in bone and soft tissue sarcomas.

摘要: We present here an analysis of the spectrum mutations p53 gene seen in 127 bone and soft tissue sarcomas various histological classifications. Gross rearrangements were analyzed by Southern blotting using a complementary DNA probe from gene, subtle alterations entire coding sequence (exons 2 through 11) identified combination single-strand conformation polymorphism direct genomic sequencing. A total 42 somatic found, which 21 gross alterations. These included 17 cases single base substitution, 3 small deletions, one insertion. In contrast to reported findings for other types cancer, we found that are quite heterogeneous both their distribution throughout type genetic result. All 13 missense occurred at highly conserved residues, whereas 8 nonsense sites spanned codons 46 316. Surprisingly, approximately one-half osteosarcomas with allelic deletions on 17p did not have detectable gene.