Summary
We identified a novelAvaI polymorphism within 3′ noncoding region within exon 5 of the human rhodopsin gene and determined the allele frequency in a Japanese population. The polymorphism was found to be due to A/G transversion at nucleotide 5510 of the gene.
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Dryja TP, McGee TL, Hahn LB, Cowley GS, Olson JE, Reichel E, Sandberg MA, Berson EL (1990): Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. New Engl J Med323: 1302–1307
Fujiki K, Kawano H, Hotta Y, Hayakawa M, Nicolas MG, Takeda M, Iwata F, Ohta N, Kanai A, Hashimoto T, Furuyama J (1995): Frequencies of polymorphisms in the rhodopsin gene of Japanese retinitis pigmentosa and normal individuals. Jpn J Human Genet40: 203–206
Hotta Y, Shiono T, Hayakawa M, Hashimoto T, Kanai A, Nakajima A, Noro M, Sakuma T, Tamai M, Fujiki K (1992): Molecular biological study of the rhodopsin gene in Japanese patients with autosomal dominant retinitis pigmentosa. Acta Soc Ophthalmol Jpn96: 237–242
Sung CH, Davenport CM, Hennessey JC, Maumenee IH, Jacobson SG, Heckenlively JR Nowakowsky R, Fishman G, Gouras P, Nathans J (1991): Rhodopsin mutations in autosomal dominant retinitis pigmentosa. Proc Natl Acad Sci USA88: 6481–6485
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Isashiki, Y., Feng, XM., Ohba, N. et al. A novelAvaI polymorphism within exon 5 of the rhodopsin gene. Jap J Human Genet 41, 221–223 (1996). https://doi.org/10.1007/BF01892631
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DOI: https://doi.org/10.1007/BF01892631