Fig. 4: Validation of the deletion breakpoint in RP1.

A Genotypes and variant segregation analysis in the two pedigrees carrying the deletion. These families are known to be related. B Visualization of the large structural deletion involving RP1, by OFF-PEAK⁵⁴. The shaded pink region indicates the deletion. C Molecular analysis of the breakpoint. Primers CR-7002 and CR-7003 were designed in the proximity of the borders of the deletion. In control subjects, such primers do not yield any PCR product in standard conditions, since the DNA stretch that separates them is too long (~ 11 kb). However, in subjects bearing the deletion, they resulted in a 343 bp amplification product, which was subsequently sequenced to reveal the precise breakpoint. Genomic coordinates are given with respect to the hg19 reference sequence (hg38 coordinates of the deletion are: chr8:54619524-54630639).