Figure 4
Figure 4. Multiplex PCR assay for detection of the UNC13D inversion. A multiplex PCR assay with 2 different forward and reverse primers was designed for rapid detection of the UNC13D inversion. (A) Primer sequences and schematic representation of primer pair positioning on wild-type (Wt) and inverted (Inv) UNC13D genomic sequence. (B) Gel electrophoresis of multiplex PCR products on genomic DNA from individuals wild-type, heterozygous, or homozygous for the inversion straddling UNC13D. In homozygous carriers of the inversion, 2 products of 725 and 922 bp are amplified. In persons that do not carry the inversion, 2 products of 466 and 1220 bp are amplified. Consequently, in heterozygous carriers of the inversion, all 4 products are amplified.

Multiplex PCR assay for detection of the UNC13D inversion. A multiplex PCR assay with 2 different forward and reverse primers was designed for rapid detection of the UNC13D inversion. (A) Primer sequences and schematic representation of primer pair positioning on wild-type (Wt) and inverted (Inv) UNC13D genomic sequence. (B) Gel electrophoresis of multiplex PCR products on genomic DNA from individuals wild-type, heterozygous, or homozygous for the inversion straddling UNC13D. In homozygous carriers of the inversion, 2 products of 725 and 922 bp are amplified. In persons that do not carry the inversion, 2 products of 466 and 1220 bp are amplified. Consequently, in heterozygous carriers of the inversion, all 4 products are amplified.

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