List of primers and their sequences used to amplify and sequence pvmdr1 (A), pvcrt-o (B) and identification of the pvmdr1 Y976F mutation (C). Primers used to amplify the fragments of the pvmdr1 and P.
Blood DNA from up to 136 ARID patients were enriched in the targeted exons and deep sequenced. The aim is to unravel the variants in the specific linkage intervals and identify the causal mutations.
In order to increase the reliability of PCR results, for certain genes 2 sets of primer pairs were used, either 2 different reverse primers (CaN, CaMKIIδ) or forward primers (PGC-1α).