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. 2017 Aug 24;8(9):210. doi: 10.3390/genes8090210

Figure 5.

Figure 5

Segregation analysis of the deletion in C21orf2. (A) Region of C21orf2 encompassing the 1,135 base pair (bp) homozygous deletion (Chr21: 45,755,728–45,756,862) observed in patient II:6 of the pedigree RF.L.11.10. A 727 bp region (Chr21: 45,755,983–45,756,710) within the 1,135 bp homozygous deletion is reported to encompass retina expressed sequence [17]. The retinal transcriptome ribonucleic acid-sequence (RNA-seq) coverage data is shown in red. In addition, this deletion also encompasses exon 3 of NM_001271442 transcript of C21orf2; (B,C) Region of C21orf2 amplified by PCR to detect the presence of wild type or mutant alleles; (D) Gel electrophoresis of the PCR products of C21orf2 deleted region in members of RF.L.10.11 family. Presence of the 345 bp PCR product in II:6 indicated the presence of the homozygous deletion in C21orf2 whereas the other members had wild type alleles.