New mutations in the APC gene in familial adenomatous polyposis: detection, characterization, and analysis.
The spectrum of mutations in the APC gene in familial adenomatous polyposis was detected in a sampling from the Russian population. Fifteen new mutations were found. Deletions associated with the loss of only 1 or 2 nucleotides (89% cases) prevailed among new (unique) mutations, while all known deletions were caused by the loss of 4 or 5 nucleotides. The detected differences in the deletion characteristics between unique and repeated mutations in the APC gene were typical of samples of patients from a number of populations. Samplings from different populations were heterogeneous by this sign. The incidence of 1-2-nucleotide deletions among unique and repeated deletions in the APC gene in patient samplings from different countries were in negative correlation.
Muzaffarova
T A
TA
Medical Genetic Research Center, Russian Academy of Medical Sciences, Moscow.
Pospekhova
N I
NI
Sachkov
I Yu
IY
Kuz'minov
A M
AM
Ginter
E K
EK
Karpukhin
A V
AV
D011125:Adenomatous Polyposis Coli / Q000235:genetics*; D001483:Base Sequence; D018388:Codon, Terminator; D004252:DNA Mutational Analysis; D017491:Genes, APC; D006801:Humans; D007438:Introns; D009154:Mutation; D020125:Mutation, Missense; D016133:Polymerase Chain Reaction; D017384:Sequence Deletion
D018388:Codon, Terminator