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].