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KMID : 0352519930300020415
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Korea Univercity Medical Journal
1993 Volume.30 No. 2 p.415 ~ p.422
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Study of Point Mutation at Codon 175 of p53 Gene in Breast Carcinoma by PCR
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김영철
김종석/김선한/목영재/최상용/문홍영/구범환
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Abstract
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The p53 gene, which is located in the short arm of chromosome 17, has been a constant source of fascination since its discovery at 1979. Allelic deletion coupled with mutation of the remaining allele is a theoretical hallmark of functional
inactivation
of tumor suppressor gene, and mutation and/or deletion of p53 gene is to be the most frequently observed genetic changes in breast cancer related to a single gene. In the present report, we have attempted to determine a point mutation at codon
175
which
is known as one of four hot spots within highly conserved regions of the p53 gene where almost all of the reported mutations cluster. A 304-bp fragment of exon 5 of p53 gene in fresh tissue of breast carcinoma was amplified by polymerase chain
reaction(PCR), digested with Hha I restriction endonuclease. and electrophoresed. A point mutation was studied by observation of polymorphism with ethidium bromide staining under ultraviolet transillumination. The result revealed all of 14
carcinomas
had wild-type p53 gene.
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KEYWORD
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