title: Mutation analysis of codons 345 and 347 of rhodopsin gene in Indian retinitis pigmentosa patients.
abstract: More than 100 mutations have been reported till date in the rhodopsin gene in patients with retinitis pigmentosa. The present study was undertaken to detect the reported rhodopsin gene point mutations in Indian retinitis pigmentosa patients. We looked for presence or absence of codon 345 and 347 mutations in exon 5 of the gene using the technique of allele-specific polymerase chain reaction by designing primers for each mutation. We have examined 100 patients from 76 families irrespective of genetic categories. Surprisingly, in our sample the very widely reported highly frequent mutations of codon 347 (P --> S/A/R/Q/L/T) were absent while the codon 345 mutation V --> M was seen in three cases in one family (autosomal dominant form) and in one sporadic case (total two families). This is the first report on codon 345 and 347 mutation in Indian retinitis pigmentosa subjects.
authors.affiliation: Division of Biochemistry, Department of Chemistry, University of Pune, Pune 411 007, India. mdikshit@chem.unipune.ernet.in
authors.forename: M
authors.initials: M
authors.lastname: Dikshit
authors.forename: R
authors.initials: R
authors.lastname: Agarwal
mesh_terms: D017209:Apoptosis; D003062:Codon; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007194:India; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012174:Retinitis Pigmentosa / Q000235:genetics*; D012243:Rhodopsin / Q000235:genetics*
chemical_list: D003062:Codon; D012243:Rhodopsin