Construction of a 750-kb bacterial clone contig and restriction map in the region of human chromosome 21 containing the progressive myoclonus epilepsy gene. 1996

N E Stone, and J B Fan, and V Willour, and L A Pennacchio, and J A Warrington, and A Hu, and A de la Chapelle, and A E Lehesjoki, and D R Cox, and R M Myers
Department of Genetics, Stanford University School of Medicine, California 94305-5120, USA.

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.

UI MeSH Term Description Entries
D008969 Molecular Sequence Data Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories. Sequence Data, Molecular,Molecular Sequencing Data,Data, Molecular Sequence,Data, Molecular Sequencing,Sequencing Data, Molecular
D002874 Chromosome Mapping Any method used for determining the location of and relative distances between genes on a chromosome. Gene Mapping,Linkage Mapping,Genome Mapping,Chromosome Mappings,Gene Mappings,Genome Mappings,Linkage Mappings,Mapping, Chromosome,Mapping, Gene,Mapping, Genome,Mapping, Linkage,Mappings, Chromosome,Mappings, Gene,Mappings, Genome,Mappings, Linkage
D002904 Chromosomes, Human, 21-22 and Y The short, acrocentric human chromosomes, called group G in the human chromosome classification. This group consists of chromosome pairs 21 and 22 and the Y chromosome. Chromosomes G,Group G Chromosomes,Chromosomes, Human, 21 22,Chromosomes, Human, 21-22,Chromosome, Group G,Chromosomes, Group G,Group G Chromosome
D003001 Cloning, Molecular The insertion of recombinant DNA molecules from prokaryotic and/or eukaryotic sources into a replicating vehicle, such as a plasmid or virus vector, and the introduction of the resultant hybrid molecules into recipient cells without altering the viability of those cells. Molecular Cloning
D003360 Cosmids Plasmids containing at least one cos (cohesive-end site) of PHAGE LAMBDA. They are used as cloning vehicles. Cosmid
D004269 DNA, Bacterial Deoxyribonucleic acid that makes up the genetic material of bacteria. Bacterial DNA
D004831 Epilepsies, Myoclonic A clinically diverse group of epilepsy syndromes characterized either by myoclonic seizures or by myoclonus in association with other seizure types. Myoclonic epilepsy syndromes are divided into three subtypes based on etiology: familial, cryptogenic, and symptomatic. Idiopathic Myoclonic Epilepsy,Myoclonic Absence Epilepsy,Myoclonic Encephalopathy,Myoclonic Epilepsy,Symptomatic Myoclonic Epilepsy,Benign Infantile Myoclonic Epilepsy,Cryptogenic Myoclonic Epilepsy,Doose Syndrome,Dravet Syndrome,Early Childhood Epilepsy, Myoclonic,Early Childhood, Myoclonic Epilepsy,Encephalopathy, Myoclonic,Epilepsy, Early Childhood, Myoclonic,Epilepsy, Myoclonic, Early Childhood,Epilepsy, Myoclonic, Infantile,Epilepsy, Myoclonic, Infantile, Benign,Epilepsy, Myoclonic, Infantile, Severe,Epilepsy, Myoclonus,Infantile Severe Myoclonic Epilepsy,Myoclonic Astatic Epilepsy,Myoclonic Epilepsy, Benign Infantile,Myoclonic Epilepsy, Early Childhood,Myoclonic Epilepsy, Infantile,Myoclonic Epilepsy, Infantile, Benign,Myoclonic Epilepsy, Infantile, Severe,Myoclonic Epilepsy, Severe Infantile,Myoclonic Epilepsy, Severe, Of Infancy,Myoclonic Seizure Disorder,Severe Infantile Myoclonic Epilepsy,Severe Myoclonic Epilepsy Of Infancy,Severe Myoclonic Epilepsy, Infantile,Astatic Epilepsies, Myoclonic,Astatic Epilepsy, Myoclonic,Cryptogenic Myoclonic Epilepsies,Dravet Syndromes,Encephalopathies, Myoclonic,Epilepsies, Cryptogenic Myoclonic,Epilepsies, Idiopathic Myoclonic,Epilepsies, Infantile Myoclonic,Epilepsies, Myoclonic Absence,Epilepsies, Myoclonic Astatic,Epilepsies, Symptomatic Myoclonic,Epilepsy, Cryptogenic Myoclonic,Epilepsy, Idiopathic Myoclonic,Epilepsy, Infantile Myoclonic,Epilepsy, Myoclonic,Epilepsy, Myoclonic Absence,Epilepsy, Myoclonic Astatic,Epilepsy, Symptomatic Myoclonic,Idiopathic Myoclonic Epilepsies,Infantile Myoclonic Epilepsies,Infantile Myoclonic Epilepsy,Myoclonic Absence Epilepsies,Myoclonic Astatic Epilepsies,Myoclonic Encephalopathies,Myoclonic Epilepsies,Myoclonic Epilepsies, Cryptogenic,Myoclonic Epilepsies, Idiopathic,Myoclonic Epilepsies, Infantile,Myoclonic Epilepsies, Symptomatic,Myoclonic Epilepsy, Cryptogenic,Myoclonic Epilepsy, Idiopathic,Myoclonic Epilepsy, Symptomatic,Myoclonic Seizure Disorders,Myoclonus Epilepsies,Myoclonus Epilepsy,Seizure Disorder, Myoclonic,Seizure Disorders, Myoclonic,Symptomatic Myoclonic Epilepsies
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D001483 Base Sequence The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence. DNA Sequence,Nucleotide Sequence,RNA Sequence,DNA Sequences,Base Sequences,Nucleotide Sequences,RNA Sequences,Sequence, Base,Sequence, DNA,Sequence, Nucleotide,Sequence, RNA,Sequences, Base,Sequences, DNA,Sequences, Nucleotide,Sequences, RNA
D015183 Restriction Mapping Use of restriction endonucleases to analyze and generate a physical map of genomes, genes, or other segments of DNA. Endonuclease Mapping, Restriction,Enzyme Mapping, Restriction,Site Mapping, Restriction,Analysis, Restriction Enzyme,Enzyme Analysis, Restriction,Restriction Enzyme Analysis,Analyses, Restriction Enzyme,Endonuclease Mappings, Restriction,Enzyme Analyses, Restriction,Enzyme Mappings, Restriction,Mapping, Restriction,Mapping, Restriction Endonuclease,Mapping, Restriction Enzyme,Mapping, Restriction Site,Mappings, Restriction,Mappings, Restriction Endonuclease,Mappings, Restriction Enzyme,Mappings, Restriction Site,Restriction Endonuclease Mapping,Restriction Endonuclease Mappings,Restriction Enzyme Analyses,Restriction Enzyme Mapping,Restriction Enzyme Mappings,Restriction Mappings,Restriction Site Mapping,Restriction Site Mappings,Site Mappings, Restriction

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