Autosomal dominant retinitis pigmentosa: A Mutation in Codon 1 81 (Glu → Lys) Of the Rhodopsin Gene in a Japanese Family
- 1 January 1994
- journal article
- Published by Taylor & Francis in Ophthalmic Genetics
- Vol. 15 (2) , 61-67
- https://doi.org/10.3109/13816819409098865
Abstract
The PCR/restriction endonuclease digestion (RE) assay and PCR/SSCP analysis of the rhodopsin gene in 13 Japanese families with autosomal dominant retinitis pigmentosa (ad R p) revealed a G-A substitution of the first nucleotide of codon 181, replacing Glu (GAG) with Lys (AAG), in one family. The proband showed an early onset of symptoms in childhood with a diffuse loss of rod and cone function and a relatively good preservation of cone function, corresponding to the type with relatively rapid progression to blindness (type 1 category of ad RP).Keywords
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