Home LiteratureArticle Details
PMID: 3414687 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

5-Aminolevulinate synthase is at 3p21 and thus not the primary defect in X-linked sideroblastic anemia.

American journal of human genetics ·Vol. 43 ·No. 3 ·1988-09-00 ·Pages 331-5

Sutherland GR, Baker E, Callen DF, Hyland VJ, May BK, Bawden MJ, Healy HM, Borthwick IA

Abstract

The gene for 5-aminolevulinate synthase (ALAS) has been mapped to 3pter-3q13.2 by Southern blot hybridization analysis of a mouse/human hybrid cell panel. In situ hybridization maps the gene to 3p21, distal to the common fragile site at 3p14.2 (FRA3B). The mapping of this gene to an autosome makes it improbable that it is the site of the primary defect in X-linked sideroblastic anemia.

MeSH Terms
5-Aminolevulinate Synthetase/genetics Anemia, Sideroblastic/genetics Chromosome Mapping Chromosomes, Human, Pair 3 Cloning, Molecular Humans Nucleic Acid Hybridization
Chemicals
5-Aminolevulinate Synthetase
Authors & Affiliations
8 authors, click to expand affiliations / ORCID
Sutherland G R
Cytogenetics Unit, Adelaide Children's Hospital, Australia.
Baker E
Callen D F
Hyland V J
May B K
Bawden M J
Healy H M
Borthwick I A
References (17)
17 references, click to expand
  1. Sequence of human 5-aminolevulinate synthase cDNA.
    Nucleic Acids Res. 1987 Oct 26;15(20):8563 PMID: 3671094
  2. Human delta-aminolevulinate dehydratase: chromosomal localization to 9q34 by in situ hybridization.
    Hum Genet. 1987 Jul;76(3):236-9 PMID: 3036687
  3. Anonymous DNA probes to human chromosome 16 derived from a flow-purified library.
    Am J Hum Genet. 1988 Feb;42(2):373-9 PMID: 3422544
  4. Hereditary, X-linked, sideroachrestic anemia. The isolation of two erythrocyte populations differing in Xga blood type and porphyrin content.
    Blood. 1968 Jul;32(1):59-70 PMID: 5658391
  5. Aminolevulinic acid synthetase activity in erythroblasts of patients with primary sideroblastic anemia.
    Nihon Ketsueki Gakkai Zasshi. 1973 Feb;36(1):74-7 PMID: 4738994
  6. A highly polymorphic locus in human DNA.
    Proc Natl Acad Sci U S A. 1980 Nov;77(11):6754-8 PMID: 6935681
  7. Regional gene assignment of human porphobilinogen deaminase and esterase A4 to chromosome 11q23 leads to 11qter.
    Proc Natl Acad Sci U S A. 1981 Sep;78(9):5734-8 PMID: 6946513
  8. Sideroblastic anaemia.
    Clin Haematol. 1982 Jun;11(2):389-409 PMID: 7042158
  9. Assignment of the human coproporphyrinogen oxidase to chromosome 9.
    Hum Genet. 1983;64(2):180-3 PMID: 6885056
  10. High-resolution chromosomal localization of human genes for amylase, proopiomelanocortin, somatostatin, and a DNA fragment (D3S1) by in situ hybridization.
    Proc Natl Acad Sci U S A. 1983 Nov;80(22):6932-6 PMID: 6196780
  11. DNA polymerase alpha inhibition by aphidicolin induces gaps and breaks at common fragile sites in human chromosomes.
    Hum Genet. 1984;67(2):136-42 PMID: 6430783
  12. Report of the Committee on the Genetic Constitution of Chromosomes 1 and 2.
    Cytogenet Cell Genet. 1985;40(1-4):67-106 PMID: 3864603
  13. Nucleotide sequence of the chicken 5-aminolevulinate synthase gene.
    Nucleic Acids Res. 1986 Feb 11;14(3):1379-91 PMID: 3005973
  14. Control of 5-aminolevulinate synthase in animals.
    Curr Top Cell Regul. 1986;28:233-62 PMID: 3539534
  15. A unique gene for 5-aminolevulinate synthase in chickens. Evidence for expression of an identical messenger RNA in hepatic and erythroid tissues.
    J Biol Chem. 1987 Mar 25;262(9):3988-92 PMID: 3558402
  16. A mouse-human hybrid cell panel for mapping human chromosome 16.
    Ann Genet. 1986;29(4):235-9 PMID: 3495225
  17. Further localization of ETS1 indicates that the chromosomal rearrangement in Ewing sarcoma does not occur at fra(11)(q23).
    Hum Genet. 1988 Feb;78(2):144-7 PMID: 3422214
Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
Published
1988-09-00
Pages
331-5
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1715374
Subset
IM
Analysis Services
Analysis Services

Contact

No. 2 Wenbo Road, Zhangqiu District, Jinan, Shandong

Qilu Normal University · Genelibs Bioinformatics Lab

750 Shunhua Rd, Jinan

2F, Bldg F, University Science Park

Tel: 0531-88819269

WeChat Official Account

Follow our WeChat subscription account for real-time updates and the latest in medical and biological research.


Business Email

E-mail: [email protected]