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PMID: 6308667 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Molecular basis of length polymorphism in the human zeta-globin gene complex.

Proceedings of the National Academy of Sciences of the United States of America ·Vol. 80 ·No. 16 ·1983-08-00 ·Pages 5022-6

Goodbourn SE, Higgs DR, Clegg JB, Weatherall DJ

Abstract

The length polymorphism between the human zeta-globin gene and its pseudogene is caused by an allele-specific variation in the copy number of a tandemly repeating 36-base-pair sequence. This sequence is related to a tandemly repeated 14-base-pair sequence in the 5' flanking region of the human insulin gene, which is known to cause length polymorphism, and to a repetitive sequence in intervening sequence (IVS) 1 of the pseudo-zeta-globin gene. Evidence is presented that the latter is also of variable length, probably because of differences in the copy number of the tandem repeat. The homology between the three length polymorphisms may be an indication of the presence of a more widespread group of related sequences in the human genome, which might be useful for generalized linkage studies.

MeSH Terms
Base Composition Base Sequence Cloning, Molecular DNA Restriction Enzymes Genes Globins/genetics Humans Insulin/genetics Nucleic Acid Hybridization Polymorphism, Genetic
Chemicals
Insulin Globins DNA Restriction Enzymes
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Goodbourn S E
Higgs D R
Clegg J B
Weatherall D J
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Article Info
Journal
Proceedings of the National Academy of Sciences of the United States of America
Abbr.
Proc Natl Acad Sci U S A
ISSN
0027-8424
DOI
10.1073/pnas.80.16.5022
Published
1983-08-00
Pages
5022-6
Language
English
Region
United States
NLM ID
7505876
PMCID
PMC384180
Subset
IM
Databases
GENBANK
J00183
External Links
PubMed source DOI: 10.1073/pnas.80.16.5022 PMC Full Text View journal details
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