Exon-intron structure of the human neuronal nicotinic acetylcholine receptor {alpha}4 subunit (CHRNA4)

Journal Article · Fri Mar 01 00:00:00 EST 1996 · Genomics

DOI:https://doi.org/10.1006/geno.1996.0119· OSTI ID:466606

Steinlein, O; Weiland, S; Stoodt, J; Propping, P ^[1]

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1. Univ. of Bonn (Germany)

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 idopathic epilepsies. 29 refs., 3 figs., 1 tab.

• OSTI ID: 466606
• Journal Information: Genomics, Vol. 32, Issue 2; Other Information: PBD: 1 Mar 1996
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
HUMAN CHROMOSOMES
GENETIC MAPPING
ACETYLCHOLINE
STRUCTURE-ACTIVITY RELATIONSHIPS
DNA SEQUENCING
RECEPTORS
GENE MUTATIONS
PATIENTS
PHENOTYPE
HEREDITARY DISEASES
EPILEPSY
SCREENING
BIOLOGICAL MARKERS
NUCLEOTIDES
AMINO ACID SEQUENCE
POLYMERASE CHAIN REACTION
EXONS
INTRONS
NICOTINE
DOMINANT MUTATIONS
COSMIDS