Localisation of a gene for chondrocalcinosis to chromosome 5p
| Autor: | David McGibbon, M Doherty, Anne E. Hughes, Josh Dixey, Emma R. Woodward |
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| Rok vydání: | 1995 |
| Předmět: |
Male
Genetic Linkage Locus (genetics) Chondrocalcinosis Disease Biology Gene mapping Genetic linkage Genetics medicine Humans Child Molecular Biology Genetics (clinical) Family Health Polymorphism Genetic Chromosome Autosomal dominant trait Chromosome Mapping Infant General Medicine medicine.disease Pedigree Genetic marker Chromosomes Human Pair 5 Female |
| Zdroj: | Human molecular genetics. 4(7) |
| ISSN: | 0964-6906 |
| Popis: | Chondrocalcinosis is a common disorder which may associate with acute and chronic arthritis. A familial form, inherited as an autosomal dominant trait, has been mapped in a large family in which affected members also suffer recurrent fits in childhood. The gene which causes this disease shows linkage with several polymorphic markers on chromosome 5p with a maximum multipoint lod score of 4.6 between D5S810 and D5S416. Mapping a locus for chondrocalcinosis will allow the heterogeneity of the disorder to be assessed and may also be relevant to understanding the aetiology of osteoarthritis with which it commonly associates. |
| Databáze: | OpenAIRE |
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