title: 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.
authors.affiliation: Nephrology Service, Hospital Clinic Provincial, Barcelona, Spain.
authors.forename: M
authors.initials: M
authors.lastname: Bono
authors.forename: A
authors.initials: A
authors.lastname: Cases
authors.forename: J
authors.initials: J
authors.lastname: Oriola
authors.forename: J
authors.initials: J
authors.lastname: Calls
authors.forename: A
authors.initials: A
authors.lastname: Torras
authors.forename: F
authors.initials: F
authors.lastname: Rivera
mesh_terms: D000483:Alleles; D005006:Ethnicity / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D011110:Polymorphism, Genetic; D011153:Population; D011401:Promoter Regions, Genetic; D018341:Receptors, Adrenergic, alpha-2 / Q000235:genetics*; D013030:Spain
chemical_list: C547768:ADRA2A protein, human; D018341:Receptors, Adrenergic, alpha-2