Sequencing and analysis of genomic fragments from the NF1 locus

Antonia Martin-gallardo Receptor Biochemistry and Molecular Biology Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Park 405, Bethesda, Maryland, 20892, USA; Human Genome Center, Biomedical Sciences Division, Lawrence Livermore National Laboratory, Livermore, California, 94551, USA

Douglas A. Marchuk Howard Hughes Medical Institute and the Department of Internal Medicine and Human Genetics, University of Michigan, 4570 MSRB II, 1150 W. Medical Center Drive, Ann Arbor, Michigan, 48109–0650, USA

Jeannine Gocayne Receptor Biochemistry and Molecular Biology Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Park 405, Bethesda, Maryland, 20892, USA

Anthony R. Kerlavage Receptor Biochemistry and Molecular Biology Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Park 405, Bethesda, Maryland, 20892, USA

W. Richard Mccombie Receptor Biochemistry and Molecular Biology Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Park 405, Bethesda, Maryland, 20892, USA

J. Craig Venter Receptor Biochemistry and Molecular Biology Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Park 405, Bethesda, Maryland, 20892, USA

Francis S. Collins Howard Hughes Medical Institute and the Department of Internal Medicine and Human Genetics, University of Michigan, 4570 MSRB II, 1150 W. Medical Center Drive, Ann Arbor, Michigan, 48109–0650, USA

Margaret R. Wallace Howard Hughes Medical Institute and the Department of Internal Medicine and Human Genetics, University of Michigan, 4570 MSRB II, 1150 W. Medical Center Drive, Ann Arbor, Michigan, 48109–0650, USA; Center for Mammalian Genetics, Department of Pediatrics, University of Florida Health Science Center, Gainesville, Florida, 32610, USA

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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.

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Sequencing and analysis of genomic fragments from the NF1 locus

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Sequencing and analysis of genomic fragments from the NF1 locus

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