The map of chromosome 20.
Identifieur interne : 000B51 ( Main/Merge ); précédent : 000B50; suivant : 000B52The map of chromosome 20.
Auteurs : N E Simpson [Canada]Source :
- Journal of Medical Genetics [ 0022-2593 ] ; 1988-12.
English descriptors
- Teeft :
- Acad, Adenosine, Adenosine deaminase, Ahcy, Allele, Arginine, Arginine vasopressin, Biol, Biol chem, Birth defects, Cancer genet cytogenet, Carrier proteins, Cdna, Cell biol, Cell lines, Cell surface antigen, Chromosomal, Chromosomal assignment, Chromosome, Clin, Clin genet, Cystic fibrosis, Cytogenet, Cytogenet cell genet, Deaminase, Degenerative encephalopathies, Deletion, Diabetes insipidus, Dwarfism, Exon, Ferritin, Fragile site, Fragile sites, Galactosialidosis, Gene, Gene mapping, Genet, Ghrf, Growth hormone, Growth hormone deficiency, Hgm9, Human adenosine deaminase, Human chromosome, Human chromosomes, Human gene, Human gene mapping, Hybrid, Hydrolase, Immune, Immune deficiency, Infectious agent, Inosine, Insipidus, Kinase, Lebo, Locus, Monoclonal antibody, Mutation, Natl, Neuraminidase, Nucleic, Nucleic acid, Nucleic acids, Oxytocin, Partial trisomy, Peptide, Pituitary dwarfism, Polymorphic, Polymorphism, Precursor, Prion, Prion protein, Proc, Proc natl acad, Scid, Scrapie, Sialidosis, Somatic, Somatic cell, Sparkes, Src1, Src1 locus, Structural gene, Syndrome, Trisomy, Tumour, Vasopressin.
Abstract
The number of gene assignments to human chromosome 20 has increased slowly until recently. Only seven genes and one fragile site were confirmed assignments to chromosome 20 at the Ninth Human Gene Mapping Workshop in September 1987 (HGM9). One fragile site, 13 additional genes, and 10 DNA sequences that identify restriction fragment length polymorphisms (RFLPs), however, were provisionally added to the map at HGM9. Five mutated genes on chromosome 20 have a relation to disease: a mutation in the adenosine deaminase gene results in a deficiency of the enzyme and severe combined immune deficiency; mutations in the gene for the growth hormone releasing factor result in some forms of dwarfism; mutations in the closely linked genes for the hormones arginine vasopressin and oxytocin and their neurophysins are probably responsible for some diabetes insipidus; and mutations in the gene that regulates both alpha-neuraminidase and beta-galactosidase activities determine galactosialidosis. The gene for the prion protein is on chromosome 20; it is related to the infectious agent of kuru, Creutzfeld-Jacob disease, and Gertsmann-Straussler syndrome, although the nature of the relationship is not completely understood. Two genes that code for tyrosine kinases are on the chromosome, SRC1 the proto-oncogene and a gene (HCK) coding for haemopoietic kinase (an src-like kinase), but no direct relation to cancer has been shown for either of these kinases. The significance of non-random loss of chromosome 20 in the malignant diseases non-lymphocytic leukaemia and polycythaemia vera is not understood. Twenty-four additional loci are assigned to the chromosome: five genes that code for binding proteins, one for a light chain of ferritin, genes for three enzymes (inosine triphosphatase, s-adenosylhomocysteine hydrolase, and sterol delta 24-reductase), one for each of a secretory protein and an opiate neuropeptide, a cell surface antigen, two fragile sites, and 10 DNA sequences (one satellite and nine unique) that detect RFLPs.
Url:
DOI: 10.1136/jmg.25.12.794
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ISTEX:080449859F431E1FDE7B4E7FB624917682B2B8A4Le document en format XML
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<sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">The map of chromosome 20.</title>
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<wicri:regionArea>Department of Paediatrics, Queen's University, Kingston, Ontario</wicri:regionArea>
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<series><title level="j">Journal of Medical Genetics</title>
<title level="j" type="abbrev">J Med Genet</title>
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<profileDesc><textClass><keywords scheme="Teeft" xml:lang="en"><term>Acad</term>
<term>Adenosine</term>
<term>Adenosine deaminase</term>
<term>Ahcy</term>
<term>Allele</term>
<term>Arginine</term>
<term>Arginine vasopressin</term>
<term>Biol</term>
<term>Biol chem</term>
<term>Birth defects</term>
<term>Cancer genet cytogenet</term>
<term>Carrier proteins</term>
<term>Cdna</term>
<term>Cell biol</term>
<term>Cell lines</term>
<term>Cell surface antigen</term>
<term>Chromosomal</term>
<term>Chromosomal assignment</term>
<term>Chromosome</term>
<term>Clin</term>
<term>Clin genet</term>
<term>Cystic fibrosis</term>
<term>Cytogenet</term>
<term>Cytogenet cell genet</term>
<term>Deaminase</term>
<term>Degenerative encephalopathies</term>
<term>Deletion</term>
<term>Diabetes insipidus</term>
<term>Dwarfism</term>
<term>Exon</term>
<term>Ferritin</term>
<term>Fragile site</term>
<term>Fragile sites</term>
<term>Galactosialidosis</term>
<term>Gene</term>
<term>Gene mapping</term>
<term>Genet</term>
<term>Ghrf</term>
<term>Growth hormone</term>
<term>Growth hormone deficiency</term>
<term>Hgm9</term>
<term>Human adenosine deaminase</term>
<term>Human chromosome</term>
<term>Human chromosomes</term>
<term>Human gene</term>
<term>Human gene mapping</term>
<term>Hybrid</term>
<term>Hydrolase</term>
<term>Immune</term>
<term>Immune deficiency</term>
<term>Infectious agent</term>
<term>Inosine</term>
<term>Insipidus</term>
<term>Kinase</term>
<term>Lebo</term>
<term>Locus</term>
<term>Monoclonal antibody</term>
<term>Mutation</term>
<term>Natl</term>
<term>Neuraminidase</term>
<term>Nucleic</term>
<term>Nucleic acid</term>
<term>Nucleic acids</term>
<term>Oxytocin</term>
<term>Partial trisomy</term>
<term>Peptide</term>
<term>Pituitary dwarfism</term>
<term>Polymorphic</term>
<term>Polymorphism</term>
<term>Precursor</term>
<term>Prion</term>
<term>Prion protein</term>
<term>Proc</term>
<term>Proc natl acad</term>
<term>Scid</term>
<term>Scrapie</term>
<term>Sialidosis</term>
<term>Somatic</term>
<term>Somatic cell</term>
<term>Sparkes</term>
<term>Src1</term>
<term>Src1 locus</term>
<term>Structural gene</term>
<term>Syndrome</term>
<term>Trisomy</term>
<term>Tumour</term>
<term>Vasopressin</term>
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<front><div type="abstract" xml:lang="en">The number of gene assignments to human chromosome 20 has increased slowly until recently. Only seven genes and one fragile site were confirmed assignments to chromosome 20 at the Ninth Human Gene Mapping Workshop in September 1987 (HGM9). One fragile site, 13 additional genes, and 10 DNA sequences that identify restriction fragment length polymorphisms (RFLPs), however, were provisionally added to the map at HGM9. Five mutated genes on chromosome 20 have a relation to disease: a mutation in the adenosine deaminase gene results in a deficiency of the enzyme and severe combined immune deficiency; mutations in the gene for the growth hormone releasing factor result in some forms of dwarfism; mutations in the closely linked genes for the hormones arginine vasopressin and oxytocin and their neurophysins are probably responsible for some diabetes insipidus; and mutations in the gene that regulates both alpha-neuraminidase and beta-galactosidase activities determine galactosialidosis. The gene for the prion protein is on chromosome 20; it is related to the infectious agent of kuru, Creutzfeld-Jacob disease, and Gertsmann-Straussler syndrome, although the nature of the relationship is not completely understood. Two genes that code for tyrosine kinases are on the chromosome, SRC1 the proto-oncogene and a gene (HCK) coding for haemopoietic kinase (an src-like kinase), but no direct relation to cancer has been shown for either of these kinases. The significance of non-random loss of chromosome 20 in the malignant diseases non-lymphocytic leukaemia and polycythaemia vera is not understood. Twenty-four additional loci are assigned to the chromosome: five genes that code for binding proteins, one for a light chain of ferritin, genes for three enzymes (inosine triphosphatase, s-adenosylhomocysteine hydrolase, and sterol delta 24-reductase), one for each of a secretory protein and an opiate neuropeptide, a cell surface antigen, two fragile sites, and 10 DNA sequences (one satellite and nine unique) that detect RFLPs.</div>
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