TY - JOUR
T1 - Three submicroscopic deletions at the APC locus and their rapid detection by quantitative-PCR analysis
AU - De Rosa, Marina
AU - Scarano, Maria I.
AU - Panariello, Luigi
AU - Carlomagno, Nicola
AU - Rossi, Giovanni B.
AU - Tempesta, Alfonso
AU - Borgheresi, Patrizia
AU - Renda, Andrea
AU - Izzo, Paola
PY - 1999
Y1 - 1999
N2 - We describe three unrelated kindreds, affected by familial adenomatous polyposis (FAP), with 5q submicroscopic deletions that encompass the entire adenomatous polyposis coli (APC) gene and the adjacent DP1 gene. In one family the deletion encompasses also the MCC (mutated in colon cancer) gene. Affected members of these families had dysplastic adenomatous polyps and congenital hypertrophy of the retinal pigment epithelium (CHRPE); no individual was affected by mental retardation or facial dysmorphism. The deletions were detected by linkage analysis with several intragenic and closely flanking polymorphic markers and confirmed by a quantitative PCR analysis. This procedure could have an impact on the detection of the molecular defect in FAP patients in whom mutational analysis fails to identify the specific mutation.
AB - We describe three unrelated kindreds, affected by familial adenomatous polyposis (FAP), with 5q submicroscopic deletions that encompass the entire adenomatous polyposis coli (APC) gene and the adjacent DP1 gene. In one family the deletion encompasses also the MCC (mutated in colon cancer) gene. Affected members of these families had dysplastic adenomatous polyps and congenital hypertrophy of the retinal pigment epithelium (CHRPE); no individual was affected by mental retardation or facial dysmorphism. The deletions were detected by linkage analysis with several intragenic and closely flanking polymorphic markers and confirmed by a quantitative PCR analysis. This procedure could have an impact on the detection of the molecular defect in FAP patients in whom mutational analysis fails to identify the specific mutation.
KW - Adenomatous polyposis coli gene mutations
KW - Familial adenomatous polyposis
KW - Hereditary colorectal cancer
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U2 - 10.1038/sj.ejhg.5200344
DO - 10.1038/sj.ejhg.5200344
M3 - Article
C2 - 10482959
AN - SCOPUS:0032878886
VL - 7
SP - 695
EP - 703
JO - European Journal of Human Genetics
JF - European Journal of Human Genetics
SN - 1018-4813
IS - 6
ER -