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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Fregin, A. Ludwig, M. Eigel, A. Goodeve, A. Olek, K. Lavergne, J. M. Leuer, M. Ljung, R. Oldenburg, J. Peake, I. |
| Description | Country affiliation: Germany Author Affiliation: Leuer M ( Department of Clinical Biochemistry, University of Bonn, Sigmund-Freud-Strasse 25, 53105 Bonn, Germany.) |
| Abstract | Mutations in the large gene of clotting factor VIII (FVIII) are the most common events leading to severe human bleeding disorder. The high proportion of de novo mutations observed in this gene raises the possibility that a significant proportion of such mutations does not derive from a single germ cell but instead should be attributed to a germline or somatic mosaic originating from a mutation during early embryogenesis. The present study explores this hypothesis by using allele-specific PCR to analyze 61 families that included members who had sporadic severe hemophilia A and known FVIII gene defects. The presence of somatic mosaicisms of varying degrees (0.2%-25%) could be shown in 8 (13%) of the 61 families and has been confirmed by a mutation-enrichment procedure. All mosaics were found in families with point mutations (8 [25%] of 32 families). In the subgroup of 8 families with CpG transitions, the percentage with mosaicism increased to 50% (4 of 8 families). In contrast, no mosaics were observed in 13 families with small deletions/insertions or in 16 families with intron 22 inversions. Our data suggest that mosaicism may represent a fairly common event in hemophilia A. As a consequence, risk assessment in genetic counseling should include consideration of the possibility of somatic mosaicism in families with apparently de novo mutations, especially families with the subtype of point mutations. |
| ISSN | 00029297 |
| e-ISSN | 15376605 |
| Journal | The American Journal of Human Genetics |
| Issue Number | 1 |
| Volume Number | 69 |
| Language | English |
| Publisher | Cell Press (on behalf of American Society of Human Genetics) |
| Publisher Date | 2001-07-01 |
| Publisher Place | United States |
| Access Restriction | Open |
| Subject Keyword | Gene Frequency Genetics Hemophilia A Mosaicism Mutation Alleles Animals Chromosome Inversion Dna Mutational Analysis Embryo, Mammalian Embryology Exons Factor Viii Genetic Counseling Genetic Predisposition To Disease Genetic Testing Introns Pedigree Sequence Deletion Sex Characteristics Research Support, Non-u.s. Gov't Discipline Human Genetics |
| Content Type | Text |
| Resource Type | Article |
| Subject | Genetics Genetics (clinical) |
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