Oligonucleotide ligation assay combined with polymerase chain reaction (PCR
-OLA) is a technique which can be used for the detection of characterized s
equence variations. In the present study, new PCR-OLA methods were develope
d for the detection of the major mutations causing infantile neuronal ceroi
d lipofuscinosis (INCLFin), congenital nephrotic syndrome of Finnish type (
NPHS1 Fin(Major) and Fin(Minor)) and medium chain acyl-CoA dehydrogenase de
ficiency (MCAD A985G). The prevalence of these mutations in the Finnish pop
ulation was studied by analyzing blood samples collected in eastern Finland
. The throughput of PCR-OLA was further enhanced by optimizing the direct u
se of dried blood spot (DBS) specimens for PCR. This study demonstrated tha
t PCR-OLA is an accurate method for the detection of gene defects causing i
nherited disorders. With automation, PCR-OLA can be applied for routine dia
gnosis and for carrier screening from a large number of specimens.