{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,11]],"date-time":"2026-09-11T03:19:22Z","timestamp":1789096762348,"version":"build-2803163510"},"reference-count":135,"publisher":"BMJ","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1988,12]]},"abstract":"<jats:p>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.<\/jats:p>","DOI":"10.1136\/jmg.25.12.794","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"794-804","source":"Crossref","is-referenced-by-count":9,"title":["The map of chromosome 20."],"prefix":"10.1136","volume":"25","author":[{"given":"N E","family":"Simpson","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1988,12,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"390","DOI":"10.1159\/000132487","article-title":"Report of the committee on human gene mapping by recombinant DNA techniques. HGM9","volume":"46","author":"more information see Pearson PL, For; KK, Kidd; HF, Willard","year":"1987","unstructured":"For more information see Pearson PL, Kidd KK, Willard HF. Report of the committee on human gene mapping by recombinant DNA techniques. HGM9. Cytogenet Cell Genet 1987 46:390-566.","journal-title":"Cytogenet Cell Genet"},{"key":"ref_2","article-title":"ADA had been well characterised; three isozymic forms had been described by Hopkinson et al,27 one of which had low activity but not reduced to the same extent as in SCID. Tischfield et at26 assigned the locus for ADA to chromosome 20 at HGM1 by somatic cell hybridisation and this in turn assigned the locus for the disease. The locus was regionalised to 20ql3.1-*qter mainly by dosage studies of the enzyme in the cells of patients with various deletions or rearrangements of chromosome 2021 27-30 and by use of somatic cell hybrids containing translocations involving chromosome 20.31-33 More recently, three groups","unstructured":"ADA had been well characterised; three isozymic forms had been described by Hopkinson et al,27 one of which had low activity but not reduced to the same extent as in SCID. Tischfield et at26 assigned the locus for ADA to chromosome 20 at HGM1 by somatic cell hybridisation and this in turn assigned the locus for the disease. The locus was regionalised to 20ql3.1-*qter mainly by dosage studies of the enzyme in the cells of patients with various deletions or rearrangements of chromosome 2021 27-30 and by use of somatic cell hybrids containing translocations involving chromosome 20.31-33 More recently, three groups have suggested that the ADA gene is at"},{"key":"ref_3","article-title":"The infectious agent may yet prove to be a virus although nobody has found nucleic acid in the prion protein","unstructured":"The infectious agent may yet prove to be a virus although nobody has found nucleic acid in the prion protein."},{"key":"ref_4","article-title":"The agent may be a virino with a minimal amount of nucleic acid, difficult to detect, but able to induce disease by disrupting the regulatory functions of the nucleic acids of the host","unstructured":"The agent may be a virino with a minimal amount of nucleic acid, difficult to detect, but able to induce disease by disrupting the regulatory functions of the nucleic acids of the host."},{"key":"ref_5","article-title":"The prion protein is self replicating. To accept the latter hypothesis by current dogma the demonstration of nucleic acid is still needed. Bandea61 suggests that the pathogen is an inherited endogenous virus which he calls a prionic virus. The prionic virus produces the prion analogous to a pathogenic bacterium producing a toxin. Prions produced by prionic viruses may in turn stimulate other viruses to form different prions with pathological characteristics. This hypothesis fits much of the data but is not yet proven. The relation of the protein to the encephalopathies may be found within the next few years now that cDNA, mRNA, and monoclonal antibodies to","year":"a162).","unstructured":"The prion protein is self replicating. To accept the latter hypothesis by current dogma the demonstration of nucleic acid is still needed. Bandea61 suggests that the pathogen is an inherited endogenous virus which he calls a prionic virus. The prionic virus produces the prion analogous to a pathogenic bacterium producing a toxin. Prions produced by prionic viruses may in turn stimulate other viruses to form different prions with pathological characteristics. This hypothesis fits much of the data but is not yet proven. The relation of the protein to the encephalopathies may be found within the next few years now that cDNA, mRNA, and monoclonal antibodies to the protein are available (reviewed in Prusiner et a162)."},{"key":"ref_6","first-page":"762","article-title":"Ninth international workshop on human gene mapping","volume":"9","author":"46:","year":"1987","unstructured":"Human Gene Mapping 9 (1987). Ninth international workshop on human gene mapping. 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Birth Defects 1974;10:21-8.","journal-title":"Birth Defects; First international workshop on human gene mapping"},{"key":"ref_27","first-page":"1067","article-title":"Adenosine-deaminase deficiency in two patients with severely impaired cellular immunity","volume":"ii:","author":"Giblett, E.R.; Anderson, J.E.; Cohen, F.; Pollara, B.; Meuwissen, H.J.","year":"1972","unstructured":"Giblett ER, Anderson JE, Cohen F, Pollara B, Meuwissen HJ. Adenosine-deaminase deficiency in two patients with severely impaired cellular immunity. Lancet 1972;ii:1067-9.","journal-title":"Lancet"},{"key":"ref_28","first-page":"361","article-title":"Further data on the adenosine deaminase (ADA) polymorphism and a report of a new phenotype","volume":"32","author":"Hopkinson, D.A.; Cook, P.J.L.; Harris, H.","year":"1969","unstructured":"Hopkinson DA, Cook PJL, Harris H. Further data on the adenosine deaminase (ADA) polymorphism and a report of a new phenotype. 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