Familial adenomatous polyposis: identification of a new frameshift mutation of the APC gene in an Italian family.
Familial Adenomatous Polyposis (FAP) is a premalignant disease of the gastrointestinal tract inherited as an autosomal dominant trait assigned to chromosome 5q21. The 15 exons of the APC gene responsible for the defect were amplified from the DNA of one FAP patient. SSCP analysis of the amplified DNA revealed a variant conformer of exon 10. The sequencing of the cloned PCR product showed a 1 base insertion at position 1370, creating a stop codon four nucleotides downstream. SSCP analysis of 20 family members and nucleotide sequencing of exon 10 in three affected members confirmed the Mendelian inheritance of the mutant allele.
Institute of Genetics, University of Bari, Italy.
A
A
Stella
A
A
Lonoce
N
N
Resta
M
M
Gentile
F
F
Susca
C
C
Mareni
G
G
Brescia
P
P
Origoni
M P
MP
Montero
G
G
Guanti
D011125:Adenomatous Polyposis Coli / Q000235:genetics*; D001483:Base Sequence; D004247:DNA / Q000097:blood / Q000235:genetics / Q000302:isolation & purification; D004251:DNA Transposable Elements; D005091:Exons; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D007558:Italy; D007962:Leukocytes / Q000502:physiology; D008297:Male; D008969:Molecular Sequence Data; D009838:Oligodeoxyribonucleotides; D010375:Pedigree; D016133:Polymerase Chain Reaction / Q000379:methods; D012150:Polymorphism, Restriction Fragment Length; D012016:Reference Values
D004251:DNA Transposable Elements; D009838:Oligodeoxyribonucleotides; D004247:DNA