Two types of abnormal genes for plasminogen in families with a predisposition for thrombosis

Journal Article · Tue Jan 01 00:00:00 EST 1991 · Proceedings of the National Academy of Sciences of the United States of America; (United States)

DOI:https://doi.org/10.1073/pnas.88.1.115· OSTI ID:5044053

Ichinose, Akitada; Espling, E S; Petersen, T E; Davie, E W ^[1]; Takamatsu, Junki; Saito, Hidehiko ^[2]; Shinmyozu, Koichi; Maruyama, Ikuro ^[3]

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1. Univ. of Washington, Seattle (United States)
2. Nagoya Univ. School of Medicine (Japan)
3. Kagoshima Univ. School of Medicine (Japan)

The gene coding for plasminogen has been compared with several abnormal genes from Japanese patients by the polymerase chain reaction and DNA sequence analysis. Two types of abnormal genes coding for plasminogen were identified in these patients. In the type I mutation, a guanosine in GCT coding for Ala-601 near the active-site histidine was replaced by an adenosine resulting in ACT coding for threonine. This mutation was also shown by the loss of a cleavage site for Fnu4HI endonuclease, a restriction enzyme that recognizes GCTGC but not ACTGC. In the type II mutation, a guanosine in GTC coding for Val-355 was replaced by a thymidine resulting in TTC coding for phenylalanine. This change was readily shown by digestion with Ava II endonuclease, a restriction enzyme that recognized GGTCC and not GTTCC. The type I mutation has been found to be identical to a plasminogen variant identified in Japanese patients by amino acid sequence analysis and also detected by isoelectric focusing, whereas the type II mutation is a unique amino acid substitution in the connecting region between the third and fourth kringles in plasminogen. DNA sequence analysis also revealed that the abnormal genes carry several silent nucleotide substitutions located primarily within introns and 5{prime} and 3{prime} flanking regions.

• OSTI ID: 5044053
• Journal Information: Proceedings of the National Academy of Sciences of the United States of America; (United States), Vol. 88:1; ISSN 0027-8424
• Country of Publication: United States
• Language: English

Related Subjects

59 BASIC BIOLOGICAL SCIENCES
GENE MUTATIONS
DNA SEQUENCING
PLASMINOGEN
GENE REGULATION
THROMBOSIS
PATHOGENESIS
GUANOSINE
JAPAN
PHENYLALANINE
SULFUR 35
AMINO ACIDS
AROMATICS
ASIA
AZAARENES
BETA DECAY RADIOISOTOPES
BETA-MINUS DECAY RADIOISOTOPES
BLOOD COAGULATION FACTORS
CARBOXYLIC ACIDS
CARDIOVASCULAR DISEASES
COAGULANTS
DAYS LIVING RADIOISOTOPES
DEVELOPED COUNTRIES
DISEASES
DRUGS
EVEN-ODD NUCLEI
FIBRINOLYTIC AGENTS
HEMATOLOGIC AGENTS
HETEROCYCLIC COMPOUNDS
ISOTOPES
LIGHT NUCLEI
MUTATIONS
NUCLEI
NUCLEOSIDES
NUCLEOTIDES
ORGANIC ACIDS
ORGANIC COMPOUNDS
ORGANIC NITROGEN COMPOUNDS
PROTEINS
PURINES
RADIOISOTOPES
RIBOSIDES
STRUCTURAL CHEMICAL ANALYSIS
SULFUR ISOTOPES
VASCULAR DISEASES
550201* - Biochemistry- Tracer Techniques