Abstract
We report the cases of two familial adenomatous polyposis (FAP) families who presented with the same 2 base pair deletion (AG) at codon 1465 of the adenomatous polyposis coli (APC) gene, but showed phenotypic variability. The mutation was revealed by a simple nonradioactive method using a heteroduplex analysis and identified by a sequence analysis. This observation suggests the responsibility of modifier genes in FAP patients' phenotype.
MeSH terms
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Adenomatous Polyposis Coli / genetics*
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Adenomatous Polyposis Coli / pathology
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Adenomatous Polyposis Coli Protein
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Base Sequence
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Codon / genetics*
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Cytoskeletal Proteins / genetics*
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DNA / chemistry
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DNA / genetics
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DNA Mutational Analysis
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Family Health
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Fatal Outcome
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Female
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Genetic Variation
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Germ-Line Mutation
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Humans
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Pedigree
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Phenotype
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Sequence Deletion
Substances
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Adenomatous Polyposis Coli Protein
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Codon
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Cytoskeletal Proteins
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DNA