Article
Human dopamine D4 receptor gene: frequent occurrence of a null allele and observation of homozygosity.
Human molecular genetics - 1 Dec 1994
Nöthen M M, Cichon S, Hemmer S, Hebebrand J, Remschmidt H, Lehmkuhl G, Poustka F, Schmidt M, Catalano M, Fimmers R
Abstract excerpt
We report a null mutation in the first exon of the human dopamine D4 receptor (DRD4) gene. The mutation is predicted to result in a truncated non-functional protein and is the first natural nonsense mutation found in a human dopamine receptor gene. It occurs with a frequency of about 2% in the general population. The distribution of the mutation was found to be similar in healthy controls and patients suffering...
Topics
- Alleles
- Amino Acid Sequence
- Base Sequence
- Case-Control Studies
- Female
- Frameshift Mutation
- Homozygote
- Humans
- Male
- Mental Disorders
- Molecular Sequence Data