Common inversion polymorphisms and rare microdeletions at 15q13.3
| Autor: | Rachel H Flomen, Andrew Makoff |
|---|---|
| Rok vydání: | 2008 |
| Předmět: |
Genetics
Chromosomes Human Pair 15 congenital hereditary and neonatal diseases and abnormalities Polymorphism Genetic Letter alpha7 Nicotinic Acetylcholine Receptor Mental Disorders CHRNA7 nutritional and metabolic diseases Inversion (evolutionary biology) Receptors Nicotinic Biology nervous system diseases Nicotinic agonist Inversion polymorphism Chromosome Inversion biology.protein Humans Chromosome Deletion Homologous recombination Genetics (clinical) |
| Zdroj: | European Journal of Human Genetics. 17:149-150 |
| ISSN: | 1476-5438 1018-4813 |
| DOI: | 10.1038/ejhg.2008.189 |
| Popis: | Sharp et al1 recently described microdeletions at 15q13.3 associated with mental retardation and seizures. These deletions are between Prader–Willi/Angelman break points BP4 and BP5 and include the nicotinic acetylcholine α7 receptor gene (CHRNA7). The authors also report a common inversion polymorphism in this region, one orientation of which they suggest might predispose to the microdeletions by non-allelic homologous recombination (NAHR). |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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