Sequencing and analysis of genomic fragments from the NF1 locus

Martin-Gallardo, A., Marchuk, D. A., Gocayne, J., Kerlavage, A. R., McCombie, W. R., Venter, J. C., Collins, F. S., Wallace, M. R. (1992) Sequencing and analysis of genomic fragments from the NF1 locus. DNA sequence : The journal of DNA sequencing and mapping, 3 (4). pp. 237-243. ISSN 10425179 (ISSN)

URL: http://www.ncbi.nlm.nih.gov/pubmed/1338369

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.

Item Type: Paper
Uncontrolled Keywords: DNA article chromosome 17 chromosome map DNA sequence exon genetics human intron molecular genetics neurofibromatosis nucleotide repeat nucleotide sequence transposon tumor suppressor gene Base Sequence Chromosome Mapping Chromosomes, Human, Pair 17 DNA Mutational Analysis DNA Transposable Elements Exons Genes, Neurofibromatosis 1 Introns Molecular Sequence Data Neurofibromatosis 1 Repetitive Sequences, Nucleic Acid Sequence Analysis, DNA Support, Non-U.S. Gov't Support, U.S. Gov't, P.H.S.
Subjects: bioinformatics > genomics and proteomics > analysis and processing
bioinformatics
bioinformatics > genomics and proteomics > genetics & nucleic acid processing > DNA, RNA structure, function, modification
bioinformatics > genomics and proteomics > genetics & nucleic acid processing
bioinformatics > genomics and proteomics
bioinformatics > genomics and proteomics > analysis and processing > Sequence Data Processing
bioinformatics > genomics and proteomics > genetics & nucleic acid processing > DNA, RNA structure, function, modification > exons
bioinformatics > genomics and proteomics > genetics & nucleic acid processing > DNA, RNA structure, function, modification > introns
CSHL Authors:
Communities: CSHL labs > McCombie lab
Depositing User: Matt Covey
Date Deposited: 23 Apr 2013 15:14
Last Modified: 23 Apr 2013 15:14
URI: http://repository.cshl.edu/id/eprint/28245

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