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Mutational analysis of the human MAOA gene
E A Tivol1, C Shalish, D E Schuback
1Molecular Neurogenetics Unit, Massachusetts General Hospital, Charlestown 02129, USA.
American Journal of Medical Genetics
|February 16, 1996
Summary
Genetic variations in the monoamine oxidase A (MAOA) gene show remarkable conservation in males. This study provides tools to investigate MAOA gene mutations in neuropsychiatric conditions.
Area of Science:
- Neurogenetics
- Biochemistry
Background:
- Monoamine oxidases (MAO-A and MAO-B) degrade key neurotransmitters.
- Significant variations in MAO-A and MAO-B enzyme activity exist in humans.
- The MAOA gene, located on the X chromosome, is linked to impulsive aggressive behavior.
Purpose of the Study:
- To evaluate genetic variations in the coding sequence of the MAOA gene.
- To investigate MAOA gene sequence conservation in control males with significant MAO-A activity variations.
Main Methods:
- Reverse transcription-polymerase chain reaction (RT-PCR)
- Single-strand conformation polymorphism (SSCP) analysis
- Sequencing of mRNA or genomic DNA
Main Results:
- High conservation of the MAOA gene coding sequence was observed in 40 control males.
- Only 5 polymorphisms were identified, with most in the third codon position, not altering amino acid sequences.
- A single neutral amino acid alteration (lys --> arg) was found, not affecting protein structure.
Conclusions:
- The human MAOA gene coding sequence is highly conserved in control males.
- The study provides primer sets for identifying MAOA gene mutations in males with neuropsychiatric disorders.