IMPE Abstracts

Introduction: The genetic polymorphisms in CYP21A2, the responsible gene of 21-hydroxylase deficiency (21OHD), are mostly generated by intragenic recombination with the adjacently located pseudogene, CYP21A1P, which shares 98% homologous sequences with CYP21A2. Gene conversion of the CYP21A2 region cannot be identified by usual PCR and Sanger sequencing, because of complicated cross-contamination of CYP21A1P. Next-g...