Regular Article
Combined SSCP/heteroduplex analysis in the screening for PAX6 mutations

https://doi.org/10.1006/mcpr.1997.0117Get rights and content

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..

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    Importantly, the poor association between iris and foveal hypoplasia underscores the importance of a thorough ocular examination for all members of families with aniridia, even those who initially seem unaffected. The IVS2-delA mutation, found in all 8 participants with aniridia, affects splicing in the 5′ untranslated region of the PAX6 gene, probably excluding exon 3, but the effect on protein translation is unknown.35,36 The mutation, reported in the PAX6 Allelic Variant Database, segregates with aniridia in a United Kingdom family and 2 sporadic cases in Russia and Germany.3

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