Construction of a 750-kb bacterial clone contig and restriction map in the region of human chromosome 21 containing the progressive myoclonus epilepsy gene

Nancy E Stone; Jian-Bing Fan; Virginia Willour; Len A Pennacchio; Janet A Warrington; An Hu; Albert de la Chapelle; Anna-Elina Lehesjoki; David R Cox; Richard M Myers

doi:10.1101/gr.6.3.218

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Construction of a 750-kb bacterial clone contig and restriction map in the region of human chromosome 21 containing the progressive myoclonus epilepsy gene

Journal article

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Construction of a 750-kb bacterial clone contig and restriction map in the region of human chromosome 21 containing the progressive myoclonus epilepsy gene

Nancy E Stone, Jian-Bing Fan, Virginia Willour, Len A Pennacchio, Janet A Warrington, An Hu, Albert de la Chapelle, Anna-Elina Lehesjoki, David R Cox and Richard M Myers

Genome research, Vol.6(3), pp.218-225

03/1996

DOI: 10.1101/gr.6.3.218

PMID: 8963899

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Abstract

The gene responsible for progressive myoclonus epilepsy of the Unverricht-Lundborg type (EPM1) is located on human chromosome 21q22.3 in a region defined by recombination breakpoints and linkage disequilibrium. As part of an effort to clone the EPM1 gene on the basis of its chromosomal location, we have constructed a 753-kb bacterial clone contig that encompasses the region containing the gene. Because DNA markers from the region did not identify intact yeast artificial chromosome (YAC) clones after screening several libraries, we built the contig from cosmid clones and used bacterial artificial chromosome (BAC) and bacteriophage P1 clones to fill gaps. In addition to constructing the clone contig, we determined the locations of the EcoRI, SacII, EagI, and NotI restriction sites in the clones, resulting in a high-resolution restriction map of the region. Most of the contig is represented by a level of redundancy that allows the orders of most restriction sites to be determined, provides multiple data points supporting the clone orders and orientations, and allows a set of clones with a minimum degree of overlap to be chosen for efficient additional analysis. The clone and restriction maps are in excellent agreement with maps generated of the region by other methods. These ordered bacterial clones and the mapping information obtained from them provide valuable reagents for isolating candidate genes for EPM1, as well as for determining the nucleotide sequence of a 750 kb region of the human genome.

Polymerase Chain Reaction

Gene Library

Humans

Molecular Sequence Data

Cosmids - genetics

Chromosome Mapping

DNA, Bacterial - chemistry

Restriction Mapping

Chromosomes, Human, 21-22 and Y

DNA, Bacterial - genetics

Base Sequence

Cloning, Molecular

Epilepsies, Myoclonic - genetics

Details

Title: Subtitle: Construction of a 750-kb bacterial clone contig and restriction map in the region of human chromosome 21 containing the progressive myoclonus epilepsy gene
Creators: Nancy E Stone - Stanford University School of Medicine
Jian-Bing Fan
Virginia Willour
Len A Pennacchio
Janet A Warrington
An Hu - Stanford University School of Medicine
Albert de la Chapelle
Anna-Elina Lehesjoki
David R Cox
Richard M Myers
Resource Type: Journal article
Publication Details: Genome research, Vol.6(3), pp.218-225
DOI: 10.1101/gr.6.3.218
PMID: 8963899
NLM abbreviation: Genome Res
ISSN: 1088-9051
eISSN: 1549-5469
Publisher: United States
Grant note: HD-24610 / NICHD NIH HHS IF32GM17502 / NIGMS NIH HHS P50 HG-00206 / NHGRI NIH HHS
Language: English
Date published: 03/1996
Academic Unit: Psychiatry; Iowa Neuroscience Institute
Record Identifier: 9984003907102771

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