Submicroscopic deletions of the APC gene: a frequent cause of familial adenomatous polyposis that may be overlooked by conventional mutation scanning

Primer Sequence Ref Product size (bp) pmol per reaction APC exon 8 for ACC TAT AGT CTA AAT TAT ACC ATC 18 184 5 APC exon 8 rev GTC ATG GCA TTA GTG ACC AG 18 5 APC exon 15A for GTT ACT GCA TAC ACA TTG TGA C 18 371 2.5 APC exon 15A rev GCT TTT TGT TTC CTA ACA TGA AG 18 2.5 APC exon 15D for CTG CCC ATA CAC ATT CAA ACA C 18 382 2.5 APC exon 15D rev TGT TTG GGT CTT GCC CAT CTT 18 2.5 APC exon 15F for AAG CCT ACC AAT TAT AGT GAA CG 18 435 7.5 APC exon 15F rev AGC TGA TGA CAA AGA TGA TAA TG 18 7.5 MPZ exon 1 for CAG TGG ACA CAA AGC CCT CTG TGT A Yau (pers com) 389 7.5 MPZ exon 1 rev GAC ACC TGA GTC CCA AGA CTC CCA G Yau (pers com) 7.5 MPZ exon 2 for CTC ACT TCC TCT GTA TCC CTT ACT G Yau (pers com) 393 10 MPZ exon 2 rev GGA GGA CAA TGT AGT CAG GGT GAC A Yau (pers com) 10 MPZ exon 3 for TGA CAG CTG TGT TCT CAT TAG GGT C Yau (pers com) 453 7.5 MPZ exon 3 rev TCC GAG TGT ATG CCC TGC ATT GAG G Yau (pers com) 7.\n The order of the markers and exons is 5[variant prime] of APCto 3[variant prime] of APC. CGH is a promising alternative, but limitations in the size of deletions or duplications detectable by metaphase spreads must be overcome by the availability of arrayed DNA before the technique can be generally applicable. Since automated fragment analysis is already widely used in genetic diagnostic laboratories, the use of dosage quotient analysis offers a robust and accessible means to test for microdeletions and duplications.