title: Combined SSCP/heteroduplex analysis in the screening for PAX6 mutations.
abstract: 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..
authors.affiliation: Human Genetics Unit, Medical Research Council, Western General Hospital, Crewe Road, Edinburgh, EH4 2XU, Scotland.
authors.forename: R A
authors.initials: RA
authors.lastname: Axton
authors.forename: I M
authors.initials: IM
authors.lastname: Hanson
authors.forename: J
authors.initials: J
authors.lastname: Love
authors.forename: A
authors.initials: A
authors.lastname: Seawright
authors.forename: J
authors.initials: J
authors.lastname: Prosser
authors.forename: V
authors.initials: V
authors.lastname: van Heyningen
mesh_terms: D015783:Aniridia / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics*; D005136:Eye Proteins; D005260:Female; D018398:Homeodomain Proteins; D006801:Humans; D008297:Male; D009154:Mutation; D009692:Nucleic Acid Heteroduplexes; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors; D010375:Pedigree; D018807:Polymorphism, Single-Stranded Conformational; D012097:Repressor Proteins
chemical_list: D004268:DNA-Binding Proteins; D005136:Eye Proteins; D018398:Homeodomain Proteins; D009692:Nucleic Acid Heteroduplexes; D000071841:PAX6 Transcription Factor; C000605730:PAX6 protein, human; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins