Somatic origin of inherited haemophilia A
| Autor: | H. Pannekoek, Pieter H. Reitsma, J. J. P. van de Kamp, A. H. J. T. Bröcker-Vriends, J. C. F. M. Dreesen, Ernest Briët, B. Bakker, Peter L. Pearson |
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| Rok vydání: | 1990 |
| Předmět: |
Male
Somatic cell Haemophilia A Biology Hemophilia A medicine.disease_cause Haemophilia Exon Genetics medicine Humans Genetics (clinical) Clotting factor Mutation Factor VIII Mosaicism Chromosome Mapping medicine.disease Human genetics Pedigree Female Chromosome Deletion Restriction fragment length polymorphism Polymorphism Restriction Fragment Length |
| Zdroj: | Human Genetics. 85:288-292 |
| ISSN: | 1432-1203 0340-6717 |
| DOI: | 10.1007/bf00206748 |
| Popis: | We found a partial deletion of the clotting factor VIII gene of about 2000 bp, spanning exon 5 and part of intervening sequence 4 and 5 in an isolated patient with severe haemophilia A. The mother of the patient, who appeared to be a non-carrier on the basis of coagulation assays and restriction fragment length polymorphism analysis in the family, turned out to be a mosaic for the deletion, not only in her germ cells, but also in various somatic cells. These findings suggest that the mutation is the result of an event in early embryogenesis. If mosaicism for a mutation, either gonadal or somatic, proves to be a common phenomenon in human genetics, it is imperative to reconsider genetic risks for (future) sibs of any apparently new mutant of a hereditary disease. |
| Databáze: | OpenAIRE |
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