Novel Rhodopsin Gene Mutations: Phe9Leu and Met207Ile in Retinitis Pigmentosa (RP)

¹Kudasiewicz-Kardaszewska A., ²Wojcierowski J., ¹Zagórski Z.,
¹Lublin University School of Medicine, Tadeusz Krwawicz Chair of Ophthalmology & 1st Eye Hospital (Lublin)
²Lublin University School of Medicine, Department of Genetics (Lublin)

Purpose: The aim of the study was to present new rhodopsin gene mutations in retinitis pigmentosa patients.
Method: 23 retinitis pigmentosa patients donated their blood for DNA extraction. DNA samples were amplified and screened for rhodopsin gene mutations with the use of single stranded conformational polymorphism. This method is based on observation that even single point mutation changes single stranded DNA conformation and influenced its migration in polyacrylamide gel. Samples with different profiles of strands migration were sequenced in order to determine the DNA sequence. DNA from 7 unrelated healthy volunteers served as a control.
Results: DNA sequencing revealed two new mutations in the rhodopsin gene: in 9^th codon - Phe9Leu and in codon 207 – Met207Ile, both absent in the control group. The first one occurred in both alleles in arRP patient. His heterozygous children were healthy carriers of the mutation. The second one occurred in an adRP family where RP coexisted with high myopia. Proband and his mother were heterozygous to this mutation. Their healthy relatives had normal DNA sequence.
Conclusions: 1. New mutations in the group of retinitis pigmentosa patients indicate high allelic heterogeneity of the disease. 2. Mutation in codon 9 correlates with autosomal recessive RP; it is the second missense mutation described in recessive form of the disease. 3. Heterozygous mutation in codon 207 correlates with autosomal dominant RP connected with high myopia.

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