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. 2022 Jul 6;5:670. doi: 10.1038/s42003-022-03610-7

Fig. 1. Schematic illustration of the different types of GBA recombinant alleles and positions of PCR primers used to detect them with ONT.

Fig. 1

Not to scale, corresponding roughly to g.chr1:155,210,000-155,245,000. a Wild-type allele. Only primer pair 1 will produce an amplicon. b Non-reciprocal recombination (gene conversion). Similar to non-recombinant alleles, only primer pair 1 will produce an amplicon. c Reciprocal crossover between gene and pseudogene resulting in a 20.6 kb deletion (CNL). Only primer pair 2 will produce an amplicon. d Reciprocal crossover between gene and pseudogene resulting in a 20.6 kb duplication (CNG). Both primer pair 1 and primer pair 3 will produce amplicons. Note that the normal allele is present and that amplification with primer pair 3 will produce an amplicon independently of the number of copy number gains. CNG copy number gain, CNL copy number loss.