title: Sequencing and analysis of genomic fragments from the NF1 locus.
abstract: The sequence of five non-contiguous genomic fragments encompassing 14.4 kilobases from the NF1 locus have been determined by fluorescence-based automated DNA sequence analysis. These fragments included one kilobase of the NF1 coding region, which resulted in the identification of the intron/exon boundaries of five exons. Based on these sequences, five new NF1 exon-PCR assays have been developed, that could be useful for detecting new NF1 mutations. The genomic sequences were analyzed for the presence of Alu repetitive elements and their classification is described. This analysis may provide some insight into the characterization of genetic rearrangements resulting in disruption of the NF1 gene.
authors.affiliation: Receptor Biochemistry and Molecular Biology Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892.
authors.forename: A
authors.initials: A
authors.lastname: Martin-Gallardo
authors.forename: D A
authors.initials: DA
authors.lastname: Marchuk
authors.forename: J
authors.initials: J
authors.lastname: Gocayne
authors.forename: A R
authors.initials: AR
authors.lastname: Kerlavage
authors.forename: W R
authors.initials: WR
authors.lastname: McCombie
authors.forename: J C
authors.initials: JC
authors.lastname: Venter
authors.forename: F S
authors.initials: FS
authors.lastname: Collins
authors.forename: M R
authors.initials: MR
authors.lastname: Wallace
mesh_terms: D001483:Base Sequence; D002874:Chromosome Mapping; D002886:Chromosomes, Human, Pair 17; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D004251:DNA Transposable Elements; D005091:Exons; D016514:Genes, Neurofibromatosis 1; D006801:Humans; D007438:Introns; D008969:Molecular Sequence Data; D009456:Neurofibromatosis 1 / Q000235:genetics; D012091:Repetitive Sequences, Nucleic Acid; D017422:Sequence Analysis, DNA
chemical_list: D004251:DNA Transposable Elements; D004247:DNA