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Literature DB >> 2983542

Hereditary thrombosis in a Utah kindred is caused by a dysfunctional antithrombin III gene.

S C Bock, J F Harris, C E Schwartz, J H Ward, E J Hershgold, M H Skolnick.

Abstract

Maximum likelihood analysis of linkage between antithrombin III (ATIII) DNA polymorphisms and ATIII deficiency in a large Utah kindred suggests that thrombotic disease in this family is caused by a dysfunctional ATIII gene. ATIII-deficient family members were identified on the basis of: (1) reduced anticoagulant activity and (2) the presence of an electrophoretically abnormal inhibitor molecule in their plasmas. Affected individuals have two copies of the ATIII structural gene, and both alleles appear normal at the resolution of whole genome Southern blotting. However, family studies revealed statistically significant cosegregation of ATIII-deficiency trait and a particular ATIII DNA polymorphism haplotype (lod = 3.35; theta = 0.0); this result is consistent with the presence of a dysfunctional ATIII gene on a chromosome of the +, S haplotype.

Entities: Disease Gene Mutation

Mesh：

Substances：

Year: 1985 PMID： 2983542 PMCID： PMC1684539

Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025

20 in total

1. Sequential tests for the detection of linkage.

Authors: N E MORTON
Journal: Am J Hum Genet Date: 1955-09 Impact factor: 11.025

2. Detection of specific sequences among DNA fragments separated by gel electrophoresis.

Authors: E M Southern
Journal: J Mol Biol Date: 1975-11-05 Impact factor: 5.469

3. Linkage relationships of dominant antithrombin III deficiency and the heterochromatic region of chromosome 1.

Authors: R E Magenis; T Donlon; M Parks; M L Rivas; E W Lovrien
Journal: Cytogenet Cell Genet Date: 1978

4. Immunochemical quantitation of antigens by single radial immunodiffusion.

Authors: G Mancini; A O Carbonara; J F Heremans
Journal: Immunochemistry Date: 1965-09

5. Cleavage of structural proteins during the assembly of the head of bacteriophage T4.

Authors: U K Laemmli
Journal: Nature Date: 1970-08-15 Impact factor: 49.962

6. Linkage study of antithrombin III.

Authors: E W Lovrien; R E Magenis; M L Rivas; S Goodnight; R Moreland; S Rowe
Journal: Cytogenet Cell Genet Date: 1978

7. Polymorphic DNA region adjacent to the 5' end of the human insulin gene.

Authors: G I Bell; J H Karam; W J Rutter
Journal: Proc Natl Acad Sci U S A Date: 1981-09 Impact factor: 11.205

8. "Western blotting": electrophoretic transfer of proteins from sodium dodecyl sulfate--polyacrylamide gels to unmodified nitrocellulose and radiographic detection with antibody and radioiodinated protein A.

Authors: W N Burnette
Journal: Anal Biochem Date: 1981-04 Impact factor: 3.365

Hereditary thrombosis in a Utah kindred is caused by a dysfunctional antithrombin III gene.

1. Sequential tests for the detection of linkage.

2. Detection of specific sequences among DNA fragments separated by gel electrophoresis.

3. Linkage relationships of dominant antithrombin III deficiency and the heterochromatic region of chromosome 1.

4. Immunochemical quantitation of antigens by single radial immunodiffusion.

5. Cleavage of structural proteins during the assembly of the head of bacteriophage T4.

6. Linkage study of antithrombin III.

7. Polymorphic DNA region adjacent to the 5' end of the human insulin gene.

8. "Western blotting": electrophoretic transfer of proteins from sodium dodecyl sulfate--polyacrylamide gels to unmodified nitrocellulose and radiographic detection with antibody and radioiodinated protein A.

Review 9. Antithrombin III deficiency and thromboembolism.

Review 10. Construction of a genetic linkage map in man using restriction fragment length polymorphisms.

1. Evidence linking familial thrombosis with a defective antithrombin III gene in two British kindreds.

2. Loss of alleles from the distal short arm of chromosome 1 occurs late in melanoma tumor progression.

Review 3. Diagnosis of genetic disease using recombinant DNA.

Review 4. Chromosome 1 in relation to human disease.

5. Antithrombin III: summary of first database update.

6. To be or not to be a case of heparin resistance.