OP11. MUTATION ANALYSIS OF RHO GENE AND NOVEL MUTATION ARG252PRO (755G→C) IN PATIENTS WITH NONSYNDROMIC RETINITIS PIGMENTOSA FROM BASHKORTOSTAN
E. R. GRINBERG , L. U. Dzhemileva, E. K. Khusnutdinova Institute of biochemistry and genetics, Ufa, Russian Federation. email: grinberg_ela@mail.ru
*Corresponding Author:
page: 40

Abstract

Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous group of retinal degenerative diseases in wich abnormalities of the photoreceptors or the retinal pigment epithelium of the retina lead to progressive visual loss. The prevalence of RP is 19 to 27 per 100 000 in general population. At least 40 different genes or loci are known to cause nonsyndromic RP. In the autosomal dominant form, which comprises about 25% of total cases, approximately 30% of families have mutations in the RHO gene. We examined all exons of RHO gene in 120 unrelated patients with RP and 120 unaffected individuals by SSCP-analysis and direct sequencing. We detected sequence change IVS3+4C→T. There were statistically significant differences in allele and genotype frequencies of polymorphism IVS3+4C→T in affected patients with RP (0.36) and in controls (0.1). So, according to our data, this polymorphism is likely to be pathogenic. We analyzed polymorphism Mfd2CA of RHO gene and revealed 14 allelic variants. Alleles 116 and 132 of polymorphism Mfd2CA are significantly more frequent in patients than in controls. Also we report the identification of a novel mutation Arg252Pro (755G→C) of the 4 exon RHO gene in 1 Bashkirian family with RP. All family members carried mutation Arg252Pro in heterozygous form and have similar fundus appearances. Identification of the molecular defects underlying retinal degeneration will allow clinicians to establish more accurate diagnoses and prospects for prenatal diagnostic.




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