Article
Regionally clustered APC mutations are associated with a severe phenotype and occur at a high frequency in new mutation cases of adenomatous polyposis coli.
Human molecular genetics - 1 Jan 1994
Gayther S A, Wells D, SenGupta S B, Chapman P, Neale K, Tsioupra K, Delhanty J D
Abstract excerpt
Germline mutation in APC at 5q21-22 results in the dominantly inherited syndrome adenomatous polyposis coli (APC). Somatic mutation in this gene is an early event in colorectal tumourigenesis. Both types of mutation are concentrated in the 5' half of exon 15. We have used single strand conformati...
Topics
- Adenomatous Polyposis Coli
- Base Sequence
- Chromosome Mapping
- Chromosomes, Human, Pair 5
- Codon
- Colorectal Neoplasms
- DNA
- DNA Primers
- Exons
- Female
- Genes, APC
- Humans
- Male
- Mutation
- Nucleic Acid Heteroduplexes
- Pedigree
- Point Mutation
- Polymerase Chain Reaction