Detection of two missense mutations and characterization of a repeat polymorphism in the factor VII gene (F7)
| Autor: | Mirko Pinotti, Giovanna Marchetti, P. Patracchini, V. DeRosa, Donato Gemmati, Alessandra Casonato, G. Rodorigo, Antonio Girolami, Francesco Bernardi |
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| Rok vydání: | 1992 |
| Předmět: |
Male
Proteases Factor VII Deficiency Glutamine medicine.medical_treatment DNA Mutational Analysis Molecular Sequence Data Biology medicine.disease_cause Polymerase Chain Reaction chemistry.chemical_compound Genetics medicine Humans Missense mutation Child Transversion Factor X Deficiency Genetics (clinical) Repetitive Sequences Nucleic Acid Chromosome Aberrations Serine protease Mutation Polymorphism Genetic Protease Base Sequence Chromosomes Human Pair 13 Transition (genetics) Factor VII Molecular biology Pedigree Genes Italy chemistry biology.protein Female |
| Zdroj: | Scopus-Elsevier |
| ISSN: | 1432-1203 0340-6717 |
| DOI: | 10.1007/bf00219173 |
| Popis: | The 3' portion of the coagulation factor VII gene, containing the activation and serine protease domains, was investigated in four subjects with factor VII deficiency by temperature gradient gel electrophoresis and sequencing of polymerase chain reaction (PCR) products. Molecules displaying an altered melting behaviour were detected in three subjects, and direct sequencing showed two mutations. A G-to-T transversion causing a missense mutation, Cys-310 to Phe, suppresses a disulphide bond conserved in the catalytic domain of all serine proteases. This mutation, which in the homozygous form causes a severe reduction in protease activity (4%), was found in two patients from different Italian regions. A G-to-A transition, which gives rise to a missense mutation, Arg-304 to Gln, and is associated with the factor VII padua variant, was found in the heterozygous form in a subject also affected by von Willebrand disease. Two polymorphic alleles, which differ in one repeat monomer element, were precisely mapped in a region spanning the exon-intron 7 border of the factor VII gene and studied in families with factor VII or X deficiency. |
| Databáze: | OpenAIRE |
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