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Three novel mutations of the NF1 gene detected by temperature gradient gel electrophoresis of exons 5 and 8
Author(s) -
Horn Denise,
Robinson Peter N.,
Böddrich Annett,
Buske Annegret,
Tinschert Sigrid,
Nürnberg Peter
Publication year - 1996
Publication title -
electrophoresis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.666
H-Index - 158
eISSN - 1522-2683
pISSN - 0173-0835
DOI - 10.1002/elps.1150171011
Subject(s) - exon , transversion , microbiology and biotechnology , genetics , intron , biology , transition (genetics) , splice site mutation , exon trapping , gene , rna splicing , splice , coding region , exon shuffling , silent mutation , open reading frame , mutation , alternative splicing , peptide sequence , rna , missense mutation
We screened a total of 100 unrelated patients with neurofibromatosis type 1 (NF1) for mutations in exons 5 and 8 of the NF1 gene using temperature gradient gel electrophoresis (TGGE). Careful interpretation of exon 5 TGGE patterns was necessary due to interference by an exonic polymorphism. Three novel mutations were identified: a stop mutation in exon 5 (Q239X) caused by a C→T transition at cDNA nucleotide position 715, a transition at the invariant G of the splice accceptor site in intron 4c (G655‐1A), and a transversion at the invariant G of the splice donor site in intron 8 (G1185+1T). Analysis of mRNA revealed the predicted abnormal splice products. While skipping of exon 5 causes a shift in the reading frame with a premature stop codon downstream in the middle of exon 6, skipping of exon 8 leads to an in‐frame deletion with the predicted protein product being shortened by 41 amino acids.