Haplotype Assay
STRs-(CA)n analysis was designed in order to perform intrafamilial deletion segregation and discard CVS maternal blood contamination. We amplified up to 5 DMD intronic microsatelites in family members [STRs: DYSII, 44, 45, 49 and 62] (Beggs & Kunkel, 1990; Clemens et al., 1991; King et al., 1995). The amplified microsatellites were labeled using 6-FAM-primers. PCR was performed as previously described elsewhere, with minor modifications (Luce et al., 2014). Primer sequences were obtained from the Leiden Muscular Dystrophy site [www.dmd.nl]. All PCR reactions were performed in a thermal cycler [Veriti; Applied Biosystems, Foster City, California]. PCR products were analyzed using a fragment analyzer sequencer [ABI 3730XL; Applied Biosystems, Foster City, California]. Data analysis was performed using PeakScanner software [Applied Biosystems, Foster City, California].