Mutation analysis of codons 345 and 347 of rhodopsin gene in Indian retinitis pigmentosa patients.

Simple item page
dc.contributor.authorDikshit, Men_US
dc.contributor.authorAgarwal, Ren_US
dc.date.accessioned2001-08-23en_US
dc.date.accessioned2009-06-02T07:10:47Z
dc.date.available2001-08-23en_US
dc.date.available2009-06-02T07:10:47Z
dc.date.issued2001-08-23en_US
dc.description.abstractMore 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.en_US
dc.description.affiliationDivision of Biochemistry, Department of Chemistry, University of Pune, Pune 411 007, India. mdikshit@chem.unipune.ernet.inen_US
dc.identifier.citationDikshit M, Agarwal R. Mutation analysis of codons 345 and 347 of rhodopsin gene in Indian retinitis pigmentosa patients. Journal of Genetics. 2001 Aug; 80(2): 111-6en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/114270
dc.language.isoengen_US
dc.source.urihttps://www.ias.ac.in/jgenet/index.htmlen_US
dc.subject.meshApoptosisen_US
dc.subject.meshCodonen_US
dc.subject.meshDNA Mutational Analysisen_US
dc.subject.meshFemaleen_US
dc.subject.meshHumansen_US
dc.subject.meshIndiaen_US
dc.subject.meshMaleen_US
dc.subject.meshMutation, Missenseen_US
dc.subject.meshPedigreeen_US
dc.subject.meshPoint Mutationen_US
dc.subject.meshPolymerase Chain Reactionen_US
dc.subject.meshRetinitis Pigmentosa --geneticsen_US
dc.subject.meshRhodopsin --geneticsen_US
dc.titleMutation analysis of codons 345 and 347 of rhodopsin gene in Indian retinitis pigmentosa patients.en_US
dc.typeJournal Articleen_US
dc.typeResearch Support, Non-U.S. Gov'ten_US
Files
License bundle
Now showing 1 - 1 of 1
No Thumbnail Available
Name:
license.txt
Size:
1.79 KB
Format:
Plain Text
Description:
Download
Collections
Journal of Genetics