Figure 4. Genomic rearrangement including the PRP31 premessenger ribonucleic acid processing factor 31 homolog gene in family RP24.
A: Schematic representation of the genomic region 19q13.42 in proximity to the PRP31 premessenger ribonucleic acid (pre-mRNA)
processing factor 31 homolog (PRPF31) gene. B: Nested primers 91525F and PRPF31–3A2R were used to amplify the region across the deletion (the estimated size of a wild-type
allele is 19,825 bp); an approximately 700 bp fragment was amplified in patient III:3, and no wild-type alleles were amplified
in normal individual III:4. C: Allele-specific polymerase chain reaction (AS-PCR) analysis shows that the amplified products of the mutation allele (315
bp) with primers 91525F and Ins-R cosegregated with patients in this family.