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Figure 1 | BMC Medical Genetics

Figure 1

From: Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population

Figure 1

Mutation in the RP1 gene due to nucleotide substitution. A. Pedigree, restriction analysis, and direct sequencing of Spanish families showing the R677X mutation. The 2177 C→T substitution abolishes the TaqI restriction site. M is the DNA marker consisting of a 100 bp ladder and U/D is the undigested DNA PCR fragment. B. Pedigree, DGGE and direct sequencing of the family carrying the Q686X mutation in the RP1 gene. Affected individuals, asymptomatic carriers and non-carriers of the mutation are represented by solid symbols, symbols with an internal dot and open symbols, respectively.

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BMC Medical Genetics

ISSN: 1471-2350

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