Chromosomal assignment of the human erythropoietin gene and its DNA polymorphism.
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.
Law
M L
ML
Cai
G Y
GY
Lin
F K
FK
Wei
Q
Q
Huang
S Z
SZ
Hartz
J H
JH
Morse
H
H
Lin
C H
CH
Jones
C
C
Kao
F T
FT
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
D004921:Erythropoietin; D004247:DNA