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

Journal Article · Tue Dec 01 00:00:00 EST 1987 · Proc. Natl. Acad. Sci. U.S.A.; (United States)

DOI:https://doi.org/10.1073/pnas.84.23.8548· OSTI ID:6468221

Klinger, K W; Winqvist, R; Riccio, A; Andreasen, P A; Sartorio, R; Nielsen, L S; Stuart, N; Stanislovitis, P; Watkins, P; Douglas, R

The regional chromosomal location of the human gene for plasminogen activator inhibitor type 1 (PAI1) was determined by three independent methods of gene mapping. PAI1 was localized first to 7cen-q32 and then to 7q21.3-q22 by Southern blot hybridization analysis of a panel of human and mouse somatic cell hybrids with a PAI1 cDNA probe and in situ hybridization, respectively. The authors frequent HindIII restriction fragment length polymorphism (RFLP) of the PAI1 gene with an information content of 0.369. In family studies using this polymorphism, genetic linkage was found between PAI1 and the loci for erythropoietin (EPO), paraoxonase (PON), the met protooncogene (MET), and cystic fibrosis (CF), all previously assigned to the middle part of the long arm of chromosome 7. The linkage with EPO was closest with an estimated genetic distance of 3 centimorgans, whereas that to CF was 20 centimorgans. A three-point genetic linkage analysis and data from previous studies showed that the most likely order of these loci is EPO, PAI1, PON, (MET, CF), with PAI1 being located centromeric to CF. The PAI1 RFLP may prove to be valuable in ordering genetic markers in the CF-linkage group and may also be valuable in genetic analysis of plasminogen activation-related diseases, such as certain thromboembolic disorders and cancer.

• Research Organization: Integrated Genetics, Inc., Framingham, MA (USA)
• OSTI ID: 6468221
• Journal Information: Proc. Natl. Acad. Sci. U.S.A.; (United States), Vol. 84:23
• Country of Publication: United States
• Language: English

Related Subjects

59 BASIC BIOLOGICAL SCIENCES
ENZYME INHIBITORS
GENETIC MAPPING
HEREDITARY DISEASES
PATHOGENESIS
RECOMBINANT DNA
HYBRIDIZATION
CARDIOVASCULAR DISEASES
HUMAN POPULATIONS
ONCOGENES
PEPTIDE HYDROLASES
PLASMINOGEN
RFLPS
DISEASES
DNA
DRUGS
ENZYMES
FIBRINOLYTIC AGENTS
GENES
HEMATOLOGIC AGENTS
HYDROLASES
MAPPING
NUCLEIC ACIDS
ORGANIC COMPOUNDS
POPULATIONS
550401* - Genetics- Tracer Techniques