Presymptomatic diagnosis of von Hippel-Lindau disease with flanking DNA markers
| Autor: | S. J. Payne, E. Bentley, Eamonn R. Maher, Frances M. Richards, M Chiano, Farida Latif, John R.W. Yates, David E. Barton, Marston Linehan, S Hosoe |
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| Rok vydání: | 1992 |
| Předmět: |
Adult
Genetic Markers Male von Hippel-Lindau Disease Adolescent endocrine system diseases Genetic Linkage Gene Expression Disease Biology urologic and male genital diseases Sex Factors Risk Factors Genetic linkage Locus heterogeneity Genetics medicine Humans Genetic Testing Von Hippel–Lindau disease Child Gene Genetics (clinical) Genetic testing Chi-Square Distribution medicine.diagnostic_test Age Factors Chromosome Mapping Reproducibility of Results Chromosome Bayes Theorem medicine.disease female genital diseases and pregnancy complications Genetic marker Female Chromosomes Human Pair 3 Lod Score Polymorphism Restriction Fragment Length Research Article |
| Zdroj: | Journal of Medical Genetics. 29:902-905 |
| ISSN: | 1468-6244 |
| DOI: | 10.1136/jmg.29.12.902 |
| Popis: | Von Hippel-Lindau (VHL) disease is a dominantly inherited cancer syndrome characterised by the development of retinal, cerebellar, and spinal haemangioblastomas, renal cell carcinoma, and phaeochromocytoma. The gene for VHL disease has been mapped to chromosome 3p25-p26 and flanking markers identified. We have investigated the usefulness of currently available DNA markers for the presymptomatic diagnosis of VHL disease. In the first part of this investigation, genetic linkage data from two previously published studies were updated and reanalysed to provide accurate estimates of sex specific recombination fractions and to confirm that there is no evidence of locus heterogeneity. In the second part of this study, 14 families containing 23 asymptomatic subjects at 50% prior risk of VHL disease were investigated with closely linked DNA markers (RAF1, D3S18, D3S732). Seventeen subjects were informative with one or more markers, six of whom were informative at markers flanking the VHL disease gene. By combining age related and DNA based risk information the carrier risk for 11 subjects was reduced to < 2%. |
| Databáze: | OpenAIRE |
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