Oligonucleotide ligation assay: applications to molecular diagnosis of inherited disorders

Abstract

Oligonucleotide ligation assay combined with polymerase chain reaction (PCR-OLA) is a technique which can be used for the detection of characterized sequence variations. In the present study, new PCR-OLA methods were developed for the detection of the major mutations causing infantile neuronal ceroid lipofuscinosis (INCL_Fin), congenital nephrotic syndrome of Finnish type (NPHS1 Fin_Major and Fin_Minor) and medium chain acyl-CoA dehydrogenase deficiency (MCAD A985G). The prevalence of these mutations in the Finnish population was studied by analyzing blood samples collected in eastern Finland. The throughput of PCR-OLA was further enhanced by optimizing the direct use of dried blood spot (DBS) specimens for PCR. This study demonstrated that PCR-OLA is an accurate method for the detection of gene defects causing inherited disorders. With automation, PCR-OLA can be applied for routine diagnosis and for carrier screening from a large number of specimens.

• Aspartyl-GLYCOSAMINURIA Carrier Screening Congenital Nephrotic Syndrome Infantile Neuronal Ceroid Lipofuscinosis Medium Chain Acyl-COA Dehydrogenase Deficiency