Evidence for a novel gene for familial febrile convulsions, FEB2, linked to chromosome 19p in an extended family from the Midwest
| Autor: | Eric W. Johnson, Derek T. Schneider, Charles G. Dokken, Peter A. Ahmann, James L. Weber, Stephen S. Rich, Harry T. Orr, Jan Dubovsky, Cormac A. O'Donovan, V. Elving Anderson, Antonio Gil-Nagel |
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| Rok vydání: | 1998 |
| Předmět: |
Male
Genetic Linkage Locus (genetics) Seizures Febrile Gene mapping Genetic linkage Convulsion Genetics medicine Humans Molecular Biology Genetics (clinical) GABRG2 Polymorphism Genetic biology Haplotype Chromosome Chromosome Mapping General Medicine medicine.disease United States Pedigree Genes biology.protein Female medicine.symptom Generalized epilepsy with febrile seizures plus Chromosomes Human Pair 19 |
| Zdroj: | Human molecular genetics. 7(1) |
| ISSN: | 0964-6906 |
| Popis: | Febrile convulsions are a common form of childhood seizure. It is estimated that between 2 and 5% of children will have a febrile convulsion before the age of 5. It has long been recognized that there is a significant genetic component for susceptibility to this type of seizure. Wallace, Berkovic and co-workers recently reported linkage of a putative autosomal dominant febrile convulsion gene to chromosome 8q13-21. We report here another autosomal dominant febrile convulsion locus on chromosome 19p. Linkage analysis in this large multi-generational family gave a maximum pairwise lod score of 4.52 with marker Mfd120 at locus D19S177. Linkage to the chromosome 8 locus was excluded in this family. Haplotype analysis using both affected and unaffected family members indicates that this febrile convulsion gene, which we call FEB2 , can be localized to an 11.7 cM, 1-2 Mb section of chromosome 19p13.3, between loci D19S591 and D19S395. |
| Databáze: | OpenAIRE |
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