title: Chromosomal assignment of the human erythropoietin gene and its DNA polymorphism.
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.
authors.forename: M L
authors.initials: ML
authors.lastname: Law
authors.forename: G Y
authors.initials: GY
authors.lastname: Cai
authors.forename: F K
authors.initials: FK
authors.lastname: Lin
authors.forename: Q
authors.initials: Q
authors.lastname: Wei
authors.forename: S Z
authors.initials: SZ
authors.lastname: Huang
authors.forename: J H
authors.initials: JH
authors.lastname: Hartz
authors.forename: H
authors.initials: H
authors.lastname: Morse
authors.forename: C H
authors.initials: CH
authors.lastname: Lin
authors.forename: C
authors.initials: C
authors.lastname: Jones
authors.forename: F T
authors.initials: FT
authors.lastname: Kao
mesh_terms: D002874:Chromosome Mapping; D002906:Chromosomes, Human, 6-12 and X; D003550:Cystic Fibrosis / Q000235:genetics; D004247:DNA / Q000032:analysis*; D004921:Erythropoietin / Q000235:genetics*; D005796:Genes; D006801:Humans; D006822:Hybrid Cells; D009693:Nucleic Acid Hybridization; D011110:Polymorphism, Genetic
chemical_list: D004921:Erythropoietin; D004247:DNA