Literature DB >> 4042693

The structural gene for human coagulation factor X is located on chromosome 13q34.

P J Scambler, R Williamson.   

Abstract

The gene coding for coagulation factor X was studied in a family segregating chromosomal abnormalities involving chromosomes 13 and 6. An individual monosomic for 13q34 was deficient in levels of clotting factors VII and X, while her brother, who is trisomic for 13q34, had elevated levels. DNA dosage studies with a cloned human factor X gene demonstrated that the low levels of factor X expression in the individual with the chromosome 13q34 deletion were due to the absence of one copy of the factor X structural gene. This confirms the assignment of the human gene coding for factor X to 13q34.

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Year:  1985        PMID: 4042693     DOI: 10.1159/000132141

Source DB:  PubMed          Journal:  Cytogenet Cell Genet        ISSN: 0301-0171


  7 in total

1.  Molecular genetic analysis of factor X deficiency: gene deletion and germline mosaicism.

Authors:  K Wieland; D S Millar; C B Grundy; R S Mibashan; V V Kakkar; D N Cooper
Journal:  Hum Genet       Date:  1991-01       Impact factor: 4.132

2.  RFLPs for PstI and EcoRI in the human blood clotting factor X gene.

Authors:  C W Hay; K A Robertson; M R Fung; R T MacGillivray
Journal:  Nucleic Acids Res       Date:  1986-06-25       Impact factor: 16.971

3.  Mapping through somatic cell hybrids and cDNA probes of protein C to chromosome 2, factor X to chromosome 13, and alpha 1-acid glycoprotein to chromosome 9.

Authors:  M Rocchi; L Roncuzzi; R Santamaria; N Archidiacono; L Dente; G Romeo
Journal:  Hum Genet       Date:  1986-09       Impact factor: 4.132

4.  A model system for the analysis of gene exclusion: cystic fibrosis and chromosome 19.

Authors:  B Wainwright; M Farrall; E Watson; R Williamson
Journal:  J Med Genet       Date:  1986-10       Impact factor: 6.318

Review 5.  DNA analysis in human disease.

Authors:  A F Wright
Journal:  J Clin Pathol       Date:  1986-12       Impact factor: 3.411

Review 6.  Diagnosis of genetic disease using recombinant DNA.

Authors:  D N Cooper; J Schmidtke
Journal:  Hum Genet       Date:  1986-05       Impact factor: 4.132

7.  Exclusion of human chromosome 13q34 as the site of the cystic fibrosis mutation.

Authors:  P J Scambler; B J Wainwright; R T MacGillivray; M R Fung; R Williamson
Journal:  Am J Hum Genet       Date:  1986-04       Impact factor: 11.025

  7 in total

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