title: Adenosine deaminase polymorphisms at the protein and DNA levels.
abstract: Adenosine deaminase (ADA, E.C. 3.5.4.4) exhibits a well-known polymorphism at the protein level. We have studied ADA and an STR polymorphism exhibiting variation of a TTTA repeat motif at intron 3 of the ADA gene in random samples from northern Portugal (N = 218) and southwestern Germany (N = 114). The ADA phenotype distribution and population data on the worldwide distribution of ADA favor recurrent mutation as an explanation for the maintenance of the ADA*2 gene product at polymorphic frequencies.
authors.affiliation: Instituto de Patologia e Imunologia Molecular, Universidade do Porto, Portugal.
authors.forename: F
authors.initials: F
authors.lastname: Santos
authors.forename: A
authors.initials: A
authors.lastname: Amorim
authors.forename: J
authors.initials: J
authors.lastname: Rocha
authors.forename: J
authors.initials: J
authors.lastname: Kömpf
mesh_terms: D000243:Adenosine Deaminase / Q000235:genetics*; D018740:Genetic Heterogeneity; D005819:Genetic Markers / Q000235:genetics*; D014644:Genetic Variation / Q000235:genetics*; D005858:Germany; D006239:Haplotypes; D006801:Humans; D007438:Introns / Q000235:genetics*; D018895:Microsatellite Repeats / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D010641:Phenotype; D011110:Polymorphism, Genetic / Q000235:genetics*; D011174:Portugal
chemical_list: D005819:Genetic Markers; D000243:Adenosine Deaminase