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. Author manuscript; available in PMC: 2007 Jul 2.
Published in final edited form as: Invest Ophthalmol Vis Sci. 2003 Oct;44(10):4171–4183. doi: 10.1167/iovs.03-0410

FIGURE 1.

FIGURE 1

RP1mRNA is produced as an illegitimate transcript in lymphoblasts. (A)RT-PCR analysis of RNA from lymphoblasts of unaffected (+/+), heterozygous (+/−), and homozygous (−/−) members of the RP01 pedigree. Nested RT-PCR was performed with mRNA that had been isolated from cultured lymphoblasts. The 314-bp product from the second PCR reaction was detected in patients heterozygous and homozygous for the Arg677Ter mutation, as well as in unaffected control members of the RP01 pedigree. There were no products in no-reverse-transcriptase (NRT) control experiments, indicating no contamination with genomic DNA. (B)Restriction enzyme digestion of the PCR products from (A). The final PCR products from three genotypes were gel pu-rified and digested with Taqα1. The undigested 314-bp fragment from the mutant RP1allele was present in both heterozygous and homozygous patients. Bands of 219 and 95 bp from the digested wild-type PCR product were detected in heterozygous and unaffected control subjects. (C)Sequence analysis of the nested RT-PCR products. The C→T (Arg667Ter) mutation was detected in the patients with Arg667Ter RP1allele.