Sequencing and analysis of genomic fragments from the NF1 locus.

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Martin-Gallardo, A; Marchuk, DA; Gocayne, J; Kerlavage, AR; McCombie, WR; Venter, JC; Collins, FS; Wallace, MR

Published Date

  • 1992

Published In

Volume / Issue

  • 3 / 4

Start / End Page

  • 237 - 243

PubMed ID

  • 1338369

International Standard Serial Number (ISSN)

  • 1042-5179

Digital Object Identifier (DOI)

  • 10.3109/10425179209034023


  • eng

Conference Location

  • England