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PMID: 3462737 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, Non-P.H.S. Research Support, U.S. Gov't, P.H.S.

Chromosomal assignment of the human erythropoietin gene and its DNA polymorphism.

Proceedings of the National Academy of Sciences of the United States of America ·Vol. 83 ·No. 18 ·1986-09-00 ·Pages 6920-4

Law ML, Cai GY, Lin FK, Wei Q, Huang SZ, Hartz JH, Morse H, Lin CH, Jones C, Kao FT

Abstract

Erythropoietin (EPO), a glycoprotein hormone, is the major physiological regulator of erythrocyte production in mammals. A cDNA clone containing the entire human EPO-coding region was used for Southern blot analysis of a series of human-Chinese hamster somatic cell hybrids containing different combinations of human chromosomes. Synteny analysis revealed 100% concordance between the EPO gene and human chromosome 7. Further localization to the region q11-q22 was accomplished by in situ hybridization of 3H-labeled human EPO cDNA to metaphase chromosomes prepared from both human lymphocytes and the cell hybrid 879-2a that contained human chromosomes 5, 7, 9, 12, and 21. In addition, restriction fragment length polymorphisms were detected at a frequency of approximately 20% in a Chinese population using restriction enzymes either HindIII or HinfI. These polymorphisms were inherited in a Mendelian fashion. Thus, the EPO marker is reasonably polymorphic and should be useful in linkage analysis with other genetic markers on chromosome 7, including the locus for cystic fibrosis.

MeSH Terms
Chromosome Mapping Chromosomes, Human, 6-12 and X Cystic Fibrosis/genetics DNA/analysis Erythropoietin/genetics Genes Humans Hybrid Cells Nucleic Acid Hybridization Polymorphism, Genetic
Chemicals
Erythropoietin DNA
Authors & Affiliations
10 authors, click to expand affiliations / ORCID
Law M L
Cai G Y
Lin F K
Wei Q
Huang S Z
Hartz J H
Morse H
Lin C H
Jones C
Kao F T
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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.83.18.6920
Published
1986-09-00
Pages
6920-4
Language
English
Region
United States
NLM ID
7505876
PMCID
PMC386622
Subset
IM
Grants
NIGMS NIH HHS · GM 33903 · United States
NICHD NIH HHS · HD 02080 · United States
NICHD NIH HHS · HD17449 · United States
External Links
PubMed source DOI: 10.1073/pnas.83.18.6920 PMC Full Text View journal details
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