NF1 mutation analysis using a combined heteroduplex/SSCP approach.

摘要: Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder characterized predominantly by neurofibromas, cafe-au-lait spots, and Lisch nodules. The disease caused disruptive mutations of the large NF1 gene, with half cases new mutation. Less than 100 constitutional have thus far been published, ranging from very deletions to point mutations. We pursued mutation analysis heteroduplex (HDA) single-strand conformational polymorphism (SSCP) individual exons. streamlined these techniques eliminate use radioactivity, apply both methods same PCR product, multiplex samples in gels. Applied simultaneously set 67 unrelated patients, HDA SSCP identified 26 and/or variants 45 59 exons tested. Disease-causing were found 19% (13/67) studied. Both detected variety including splice mutations, insertions, deletions, changes, some overlap ability each method detect variants.