Figure 3. MERTK c.-8162_1145–1212del, p.? and c.2309A>G, p.Glu770Gly are allelic variants. A: Localization of MERTK-specific primers. B: Reverse transcription PCR (RT–PCR) was performed on cDNA derived from RP116 and control RNA. Using primers 7F and 18R, we could amplify only an allele without a deletion covering exon 7 (1292 bp). PCR with 15F and 18R was used as control (372 bp). Primers sequences and PCR conditions are described in Materials and Methods and Results. C: Sanger sequencing reveals the presence of the heterozygous c.2309A>G mutation in DNA of RP116 (upper panel), the presence of the mutation c.2309G in RNA of RP116 (middle panel), and the presence of a reference A in the control RNA (lower panel).