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PMID: 6587773 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

Localization of the beta-globin gene by chromosomal in situ hybridization.

American journal of human genetics ·Vol. 36 ·No. 3 ·1984-05-00 ·Pages 576-85

Morton CC, Kirsch IR, Taub R, Orkin SH, Brown JA

Abstract

A 3.7-kilobase (kb) genomic clone of the human beta-globin gene, including 1.5-kb upstream and approximately 0.5-kb downstream, was utilized in chromosomal in situ hybridization for precise mapping of the beta-globin locus on peripheral blood lymphocyte-derived metaphases from a normal male, and for further evaluation of a clonal t(7;11) (q22;p15) translocation on bone marrow-derived metaphases from a 46-year-old male with erythroleukemia. Analyses of 205 midmetaphases from a normal male hybridized with the tritium-labeled beta-globin probe and stained with quinacrine mustard dihydrochloride revealed approximately 12% of spreads to have silver-grain deposition over the p15 band of chromosome 11. Of the 365 silver grains observed to be located on or beside chromosomes, 25 (approximately 7%) grains were localized in band p15. Karyotype analysis of a bone marrow specimen from the patient with erythroleukemia revealed hypodiploidy with various unidentified marker chromosomes as well as a presumably balanced translocation between 7q and 11p . Chromosomal in situ hybridization showed localization of silver grains at the junction between chromosomes 7 and 11 as well as to the normal chromosome 11, indicating that the beta-globin locus had not been translocated in the chromosomal rearrangement. This case demonstrates the value of chromosomal in situ hybridization in the definition of chromosome rearrangements and provides further evidence for the localization of the beta-globin gene to 11p15 .

MeSH Terms
Chromosome Banding Chromosome Mapping Chromosomes, Human, 6-12 and X Genes Globins/genetics Humans Karyotyping Leukemia, Erythroblastic, Acute/genetics Lymphocytes/ultrastructure Male Middle Aged Nucleic Acid Hybridization
Chemicals
Globins
Authors & Affiliations
5 authors, click to expand affiliations / ORCID
Morton C C
Kirsch I R
Taub R
Orkin S H
Brown J A
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40 references, click to expand
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Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
Published
1984-05-00
Pages
576-85
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1684456
Subset
IM
Grants
NIGMS NIH HHS · GM-07492 · United States
NIGMS NIH HHS · GM-17088 · United States
External Links
PubMed source PMC Full Text View journal details
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