title: A Tsp509I variant in exon 13 of the neurofibromatosis type 1 (NF1) gene allows the identification of both alleles at the mRNA level.
abstract: We describe here a new sequence variant occurring in the coding region of the neurofibromatosis (NF1) gene (exon 13). This exonic polymorphism can be directly investigated by simple restriction enzyme digestion of RT-PCR (reverse transcription-polymerase chain reaction) products, making it a powerful tool for examining allele-specific mRNA expression levels.
authors.affiliation: Laboratoire de Cytogénétique et Génétique Oncologiques, CNRS URA 1158, Institut Gustave Roussy, Villejuif, France.
authors.forename: V
authors.initials: V
authors.lastname: Régnier
authors.forename: G
authors.initials: G
authors.lastname: Danglot
authors.forename: V C
authors.initials: VC
authors.lastname: Nguyen
authors.forename: A
authors.initials: A
authors.lastname: Bernheim
mesh_terms: D000483:Alleles; D001483:Base Sequence; D005091:Exons / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D009456:Neurofibromatosis 1 / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012333:RNA, Messenger / Q000235:genetics*; D012334:RNA, Neoplasm / Q000235:genetics
chemical_list: D012333:RNA, Messenger; D012334:RNA, Neoplasm