Chemiluminescent detection ofblotted PCR products (CB-PCR)oftwo CAG dynamic mutations (Huntington's disease and spinocerebellar ataxia type1)

haveusedanon-isotopic PCR assay basedonthechemiluminescent detection ofblotted PCR products (CB-PCR)for twodynamicmutationdiseases (Hunt- ington'sdiseaseand spinocerebellar ataxiatype1).Thisgivesan accurate sizingofalleles and permitsa rapid analysis ofatriskpersons. Thesystem involves PCR ofthesamples, separation of alleleson polyacrylamide- gels, Southernblotting, and hybridisation withspecific primers3'labelled with fluorescein (Fl)-dUTPas probes.CB- PCR retains theisotopic sensitivity for accuratealleledetermination, avoids isotopic manipulation, andprovides the advantages ofsafety, longtermstorage of probes, andrecycling ofhybridisation solutions. (J7 MedGenet 1994;31:654-655)