Mutational analysis of the first 14 exons of the adenomatous polyposis coli (APC) gene.
In the present study, the polymerase chain reaction single strand conformation polymorphism (PCR-SSCP) technique has been applied to the mutation analysis of the adenomatous polyposis coli (APC) gene. We examined the first 14 exons of the APC gene in 46 polyposis coli patients. Five germline mutations were observed, including a single-nucleotide substitution and small (1-4 bp) deletions leading, in 4 cases, to a stop codon. A missense mutation in exon 3 and a 1 bp deletion in exon 4 of the APC gene were observed in patients presenting with the attenuated form of FAP.
Department of Research, University Clinics, Basel, Switzerland.
Z
Z
Dobbie
M
M
Spycher
R
R
Hürliman
R
R
Ammann
T
T
Ammann
J
J
Roth
A
A
Müller
H
H
Müller
R J
RJ
Scott
D011125:Adenomatous Polyposis Coli / Q000235:genetics*; D000328:Adult; D000368:Aged; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics*; D005260:Female; D017491:Genes, APC / Q000235:genetics*; D018095:Germ-Line Mutation; D006801:Humans; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D018807:Polymorphism, Single-Stranded Conformational