Exon–Intron Structure of the Human Neuronal Nicotinic Acetylcholine Receptor α4 Subunit (CHRNA4)
| Autor: | Sigrid Weiland, Jens Stoodt, Peter Propping, Ortrud K. Steinlein |
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| Rok vydání: | 1996 |
| Předmět: |
Genetics
DNA Complementary Base Sequence Sequence analysis Molecular Sequence Data Autosomal dominant nocturnal frontal lobe epilepsy Exons Receptors Nicotinic Gene mutation Biology Cosmids medicine.disease Molecular biology Introns Open Reading Frames Nicotinic acetylcholine receptor Exon genomic DNA medicine Humans Coding region Missense mutation Amino Acid Sequence Cloning Molecular |
| Zdroj: | Genomics. 32:289-294 |
| ISSN: | 0888-7543 |
| DOI: | 10.1006/geno.1996.0119 |
| Popis: | The human neuronal nicotinic acetylcholine receptor alpha 4 subunit gene (CHRNA4) is located in the candidate region for three different phenotypes: benign familial neonatal convulsions, autosomal dominant nocturnal frontal lobe epilepsy, and low-voltage EEG. Recently, a missense mutation in transmembrane domain 2 of CHRNA4 was found to be associated with autosomal dominant nocturnal frontal lobe epilepsy in one extended pedigree. We have determined the genomic organization of CHRNA4, which consists of six exons distributed over approximately 17 kb of genomic DNA. The nucleotide sequence obtained from the genomic regions adjacent to the exon boundaries enabled us to develop a set of primer pairs for PCR amplification of the complete coding region. The sequence analysis provides the basis for a comprehensive mutation screening of CHRNA4 in the above-mentioned phenotypes and possibly in other types of idiopathic epilepsies. |
| Databáze: | OpenAIRE |
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