Regional assignment of the erythropoietin gene to human chromosome region 7pter→q22

Abstract

The chromosomal location of the human gene for erythropoietin (EPO) was determined by Southern blot hybridization analysis of a panel of human-mouse somatic hybrid cell DNAs. DNAs from cell hybrids containing reduced numbers of human chromosomes were treated with the restriction enzyme PstIand screened with a cloned human EPO cDNA probe. EPO is assigned to human chromosome 7 based on the complete cosegregation of EPO with this chromosome in all 45 cell hybrids tested. A cell hybrid containing a translocated derivative of chromosome 7 localizes EPO to 7pter→q22. A HindIII restriction fragment length polymorphism is detected by hybridization of the EPO cDNA probe to human genomic DNA.

Plasminogen activator inhibitor type 1 gene is located at region q21.3-q22 of chromosome 7 and genetically linked with cystic fibrosis.

“…We therefore examined the linkage relationship between PAII and other markers within this group. These included the loci for the c-met protooncogene (MET) (25), the erythropoietin gene (EPO) (28), and the gene for the serum protein paraoxonase (PON) (34). The results of these analyses (Table 1) (45)(46)(47), and familial occurrence of venous thrombosis with high level of PA1l has been reported (48,49).…”

“…The PAII gene was assigned to human chromosome 7 by hybridization analysis of chromosomes sorted onto filters (18). In the present study the results of cell hybrid and in situ hybridization analysis placed PAII in the area 7q21-q22, close to the chromosomal location predicted for cystic fibrosis (CF) on the basis of genetic linkage between CF and a number of polymorphic loci (22)(23)(24)(25)(26)(27)(28) MATERIALS AND METHODS DNA Probes. The construction and characterization of the PAIR cDNA clone have been described elsewhere (17).…”

“…Seventeen two-generation nuclear families each with two (11 families) or three (6 families) affected children were also used in the linkage analysis. The establishment in these families of linkage between the loci and markers COLIA2, EPO (erythropoietin), PON, D7S8, MET, and CF has been reported (28,37,38).…”

“…Other DNA polymorphisms used for linkage analysis have been described already: metD and metH (24,25), Epo (28). The markers at the MET locus were analyzed as a haplotype, assuming no recombination between the Taq I sites and linkage equilibrium (24).…”

Erythropoietin in spinal cord injury

“…The gene encoding EPO occupies a 5.4-kb region [56] and is located on chromosome 7q11-q22 [76]. It contains five exons and four introns coding for the prohormone of 193 amino acids [41].…”