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Polymorphism at codon 36 of the p53 gene
C A Felix1, D L Brown, T Mitsudomi
1Department of Pediatrics, Children's Hospital of Philadelphia, Pennsylvania 19104.
Oncogene
|January 1, 1994
Summary
A novel polymorphism in the p53 gene was found in 4% of individuals. This genetic variation alters a restriction enzyme site and adds to known p53 coding sequence variations.
Area of Science:
- Genetics
- Molecular Biology
- Cancer Research
Background:
- The p53 gene is a critical tumor suppressor.
- Genetic variations, or polymorphisms, in the p53 gene can influence its function and cancer risk.
- Understanding p53 polymorphisms is important for cancer genetics.
Purpose of the Study:
- To identify and characterize novel polymorphisms in the p53 gene.
- To investigate the functional impact of identified polymorphisms, such as changes in restriction enzyme sites.
Main Methods:
- Single Strand Conformation Polymorphism (SSCP) analysis was used to screen for variations.
- Direct sequencing of Polymerase Chain Reaction (PCR) amplified genomic DNA confirmed the identified polymorphism.
- Restriction enzyme digestion was performed to analyze the effect of the polymorphism on specific sites.
Main Results:
- A new polymorphism was identified in codon 36 of exon 4 of the p53 gene.
- This polymorphism changes the codon from CCG to CCA.
- The identified allele was found in heterozygous form in 4% (4 out of 100) of individuals studied, creating a BccI site and eliminating a FinI site.
Conclusions:
- A previously undescribed polymorphism in the p53 coding sequence has been characterized.
- This finding contributes to the known spectrum of p53 genetic variations.
- The alteration of restriction sites may have implications for genotyping and functional studies of p53.