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Phenotype variability of two FAP families with an identical APC germline mutation at codon 1465: a potential modifier
T Martin-Denavit1, S Duthel, S Giraud
1Service de Génétique Clinique, Hospices Civils de Lyon, Hôtel Dieu, 69288 Lyon cedex 02, France. henri.plauchu@chu-lyon.fr
Clinical Genetics
|September 13, 2001
Abstract:
We report the cases of two familial adenomatous polyposis (FAP) families who presented with the same 2 base pair deletion (AG) at codon 1465 of the adenomatous polyposis coli (APC) gene, but showed phenotypic variability. The mutation was revealed by a simple nonradioactive method using a heteroduplex analysis and identified by a sequence analysis. This observation suggests the responsibility of modifier genes in FAP patients' phenotype.