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Mutation in the TP53 gene in colorectal carcinoma detected by polymerase chain reaction
Author(s) -
Han EunSoo,
Moyer Mary Pat,
Naylor Susan,
Sakaguchi Alan Y.
Publication year - 1991
Publication title -
genes, chromosomes and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.754
H-Index - 119
eISSN - 1098-2264
pISSN - 1045-2257
DOI - 10.1002/gcc.2870030411
Subject(s) - exon , microbiology and biotechnology , gene , mutation , biology , mutant , intron , genomic dna , polymerase chain reaction , gene mutation , frameshift mutation , polymerase , genetics
The human TP53 gene is a possible tumor suppressor since TP53 gene mutations are observed in >70% of sporadic colorectal carcinoma DNAs. In genomic DNAs from seven colon cancer cell samples, a 405 base pair DNA fragment containing exon 5, intron 5, and exon 6 of the TP53 gene was amplified by polymerase chain reaction and analyzed for mutations. One sample [human colon cancer (HCC) 278] was found to have a TP53 mutation altering the amino acid glutamine 167 in exon 5. A deletion of 2 bases changed glutamine 167 (CAG) to alanine (GCA) and the resulting frame‐shift produced an in‐frame stop codon at amino acid 179. While the normal TP53 gene gives rise to a 53 kD protein, the estimated size of this mutant TP53 protein if expressed would be approximately 20 kD.