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Neurogenetics

The adenosine Al receptor gene is considered one of several candidate genes in panic disorder. We therefore performed a mutation screening of exons 5 and 6 of the human adenosine A1 receptor gene comprising the complete translated sequence in patients with panic disorder (n=40) and blood donors as controls (n=40).
Six overlapping fragments each of approximate 200 bp size covering the coding region and adjacent exon and intron regions were amplified by PCR. The obtained products were screened for mutations by SSCP-analysis at two conditions (room temperature and 40C). One silent variation was discovered in exon 5. Sequence analysis revealed a T to G substitution in the third position of codon 102 encoding alanine. To allow rapid and specific detection of this polymorphism we developed a PCR-based restriction enzyme assay using AciI. Typing 40 blood donors we obtained the following allele frequency: 62.5% for the T and 37.5% for the G in nucleotide position 716.
Studies to look for variations in the putative promoter region which may differentially regulate expression of the adenosine Al receptor gene are going on.


Headings
adenosine Al receptor gene
panic disorder

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