Polymorphisms of the human alpha 2A-adrenergic receptor gene in a Catalan population: description of a new polymorphism in the promoter region.

Abstract

Alpha 2A-adrenergic receptor polymorphisms were investigated in 55 unrelated Caucasian Catalan individuals. Phenotypes were expressed by alpha 2-adrenoreceptor density and affinity determined by radioligand binding. In addition to the two previously described biallelic restriction fragment length polymorphisms (RFLP) (DraI and Bsu36I) [Hoehe et al 1988; Sun et al 1992], a transition was located in the promoter region of the human alpha 2A-adrenergic receptor using a non-radioisotopic single-strand conformational polymorphism (SSCP) analysis. DNA sequence analysis of this region showed that this transition produces the loss of a HhaI site. In our sample, the estimates of the frequency of this allele was 11% and those of DraI alleles were similar to those reported for other Caucasian populations but different from those observed in Afro-Americans. In addition, frequencies of the Bsu36I alleles in the Catalan population differed from those of Japanese and American White populations. A slight linkage disequilibrium between Bsu36I-DraI was found in our population. No association between phenotypes and RFLP genotypes was observed.