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 each technique alone. Six previously unreported aniridia mutations in PAX6 are also described..
Axton
R A
RA
Human Genetics Unit, Medical Research Council, Western General Hospital, Crewe Road, Edinburgh, EH4 2XU, Scotland.
Hanson
I M
IM
Love
J
J
Seawright
A
A
Prosser
J
J
van Heyningen
V
V
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
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