Combined SSCP/heteroduplex analysis in the screening for PAX6 mutations

We demonstrate the use of combined SSCP and heteroduplex analysis in the detection of PAX6 mutations using non-radioactive silver staining. A panel of aniridia patients was screened by this approach and we show that a greater number of mutations was detected than would have been found by running eac...

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Bibliographic Details
Published in:Molecular and cellular probes 1997-08, Vol.11 (4), p.287-292
Main Authors: Axton, R.A., Hanson, I.M., Love, J., Seawright, A., Prosser, J., van Heyningen, V.
Format: Article
Language:English
Subjects:
aniridia
Aniridia - genetics
combined SSCP/heteroduplex analysis
DNA-Binding Proteins - genetics
Eye Proteins
Female
Homeodomain Proteins
Humans
Male
Mutation
Nucleic Acid Heteroduplexes
Paired Box Transcription Factors
PAX6 mutation screening
PAX6 Transcription Factor
Pedigree
Polymorphism, Single-Stranded Conformational
Repressor Proteins
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Description
Summary:We demonstrate the use of combined SSCP and heteroduplex analysis in the detection of PAX6 mutations using non-radioactive silver staining. A panel of aniridia patients was screened by this approach and we show that a greater number of mutations was detected than would have been found by running each technique alone. Six previously unreported aniridia mutations in PAX6 are also described..
ISSN:0890-8508
1096-1194
DOI:10.1006/mcpr.1997.0117