Detection of SMN1 to SMN2 gene conversion events and partial SMN1 gene deletions using array digital PCR

In this study, we describe the development of array digital PCR (dPCR) to quantifySMN1 andSMN2 CNs in DNA samples using probes that can distinguish the single nucleotide difference betweenSMN1 andSMN2 in exon 8. This set of dPCR assays can accurately and reliably measure the number ofSMN1 andSMN2 copies in DNA samples. In a cohort of SMA patient –derived cell lines, the assay confirmed a strong inverse correlation betweenSMN2 CN and disease severity. We can detectSMN1 –SMN2 gene conversion events in DNA samples by comparing CNs at exon 7 and exon 8. Partial deletions ofSMN1 can also be detected with dPCR by comparing CNs at exon 7 or exon 8 with those at intron 1. Array dPCR is a practical technique to determine, accurately and reliably,SMN1 andSMN2 CNs from SMA samples as well as identify gene conversion events and partial deletions ofSMN1.

Source: Neurogenetics - January 7, 2021 Category: Genetics & Stem Cells Source Type: research