Biomaterial Database

A 405-kb cosmid contig and HindIII restriction map of the progressive myoclonus epilepsy type 1 (EPM1) candidate region in 21q22.3. 1995

R G Lafrenière, and P J de Jong, and G A Rouleau

Centre for Research in Neuroscience, McGill University, Montreal, Quebec, Canada.

As a step toward identifying the molecular defect in patients afflicted with progressive myoclonus epilepsy type 1 (EPM1), we have assembled a cosmid contig of the candidate EPM1 region in 21q22.3. The contig constitutes a collection of 87 different cosmids spanning 405 kb based on a derived HindIII restriction map. Potential CpG-rich islands have been identified based on the restriction map generated from eight different rare-cutting enzymes. This contig contains the genetic material required for the isolation of expressed sequences and the identification of the gene defective in EPM1 and possibly other disorders mapping to this region.

UI	MeSH Term	Description	Entries
D008040	Genetic Linkage	The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.	Genetic Linkage Analysis,Linkage, Genetic,Analyses, Genetic Linkage,Analysis, Genetic Linkage,Genetic Linkage Analyses,Linkage Analyses, Genetic,Linkage Analysis, Genetic
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
D002891	Chromosomes, Human, Pair 21	A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.	Chromosome 21
D003360	Cosmids	Plasmids containing at least one cos (cohesive-end site) of PHAGE LAMBDA. They are used as cloning vehicles.	Cosmid
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
D005819	Genetic Markers	A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.	Chromosome Markers,DNA Markers,Markers, DNA,Markers, Genetic,Genetic Marker,Marker, Genetic,Chromosome Marker,DNA Marker,Marker, Chromosome,Marker, DNA,Markers, Chromosome
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
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
D015247	Deoxyribonuclease HindIII	One of the Type II site-specific deoxyribonucleases (EC 3.1.21.4). It recognizes and cleaves the sequence A/AGCTT at the slash. HindIII is from Haemophilus influenzae R(d). Numerous isoschizomers have been identified. EC 3.1.21.-.	DNA Restriction Enzyme HindIII,Deoxyribonuclease BstFI,Deoxyribonuclease EcoVIII,Endonuclease HindIII,B Pertussis Restriction Enzyme I,BpeI Endonuclease,Endodeoxyribonuclease BpeI,Endonuclease Asp52I,Endonuclease BbrI,Endonuclease BpeI,Endonuclease BstFI,Endonuclease Cfr32I,Endonuclease ChuI,Endonuclease Eco65I,Endonuclease Eco98I,Endonuclease EcoVIII,Endonuclease Hin1076III,Endonuclease Hin173I,Endonuclease HinJCII,Endonuclease HinbIII,Endonuclease HinfII,Endonuclease HsuI,Endonuclease LlaCI,Endonuclease MkiI,LlaCI, Endonuclease
D015723	Gene Library	A large collection of DNA fragments cloned (CLONING, MOLECULAR) from a given organism, tissue, organ, or cell type. It may contain complete genomic sequences (GENOMIC LIBRARY) or complementary DNA sequences, the latter being formed from messenger RNA and lacking intron sequences.	DNA Library,cDNA Library,DNA Libraries,Gene Libraries,Libraries, DNA,Libraries, Gene,Libraries, cDNA,Library, DNA,Library, Gene,Library, cDNA,cDNA Libraries