SMN1 and SMN2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR

In this study, we describe the development of an assay to assess SMN1 and SMN2 copy numbers in DNA samples using an array‐based digital PCR (dPCR) system. This dPCR assay can accurately and reliably measure the number of SMN1 and SMN2 copies in DNA samples. In a cohort of SMA patient‐derived cell lines, the assay confirmed a strong inverse correlation between SMN2 copy number and disease severity. Array dPCR is a practical technique to determine, accurately and reliably, SMN1 and SMN2 copy numbers from SMA samples. We describe here a new method to reliably and accurately measure SMN1 and SMN2 copy number variations in DNA samples using array digital PCR. Within our cohort of samples from spinal muscular atrophy cell lines, there is a strong, inverse correlation between SMN2 copy number and disease severity. This array has the potential to be used for the prognostic measurements of SMN1 and SMN2 copy numbers in SMA patient DNA samples.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: Method Source Type: research