α-Catulin maps to the familial dysautonomia region on 9q31
| Autor: | Paula C. Demacio, Peter N Ray |
|---|---|
| Rok vydání: | 2001 |
| Předmět: |
Male
congenital hereditary and neonatal diseases and abnormalities Linkage disequilibrium Genetic Linkage Sequence analysis Population Biology Exon Dysautonomia Familial Genetics medicine Humans Transversion education Molecular Biology Sequence (medicine) education.field_of_study Transition (genetics) Chromosome Mapping General Medicine medicine.disease Cytoskeletal Proteins Familial dysautonomia Female Chromosomes Human Pair 9 alpha Catenin Biotechnology |
| Zdroj: | Genome. 44:990-994 |
| ISSN: | 1480-3321 0831-2796 |
| Popis: | Familial dysautonomia is a severe autosomal-recessive neurodegenerative disease that primarily affects the Ashkenazi Jewish population. We present the mapping of α-catulin and show that it maps precisely to the familial dysautonomia candidate region on 9q31. Patient sequence analysis identified two new sequence variants, which show linkage disequilibrium with this disease. A G to A transition at nucleotide 423 in exon 3 is a silent base change that does not alter the Val residue at position 141. A G to C transversion at nucleotide 1579 changes the Glu at postion 527 to Gln. These base changes were analyzed in several patients, unaffected Ashkenazi Jewish controls, and non-Jewish controls. Because of the presence of these sequence variants in several unaffected individuals, α-catulin is unlikely to be the causative gene in this disease.Key words: familial dysautonomia, α-catulin, sequence variant. |
| Databáze: | OpenAIRE |
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