Enzyme Activity and Distribution of Adenosine Deaminase Types in a Population of Central Italy

Abstract

Blood samples from 718 unrelated individuals born in municipalities of the ‘Alto Maceratese’ region in central Italy were examined for adenosine deaminase (ADA). The allele frequencies for ADA*1 and ADA*2 were 92.48 and 7.45%, respectively. One case of the rare ADA 5–1 phenotype was observed. The observed phenotype distribution agreed well with the one expected assuming a Hardy-Weinberg equilibrium. Enzyme activity was measured in red blood cells from individuals with different phenotypes. The relationships between the enzyme activity of the phenotypes was found to be ADA 1 > ADA 2–1 > ADA 2 > ADA 5–1.

Association of G22A and A4223C ADA1 gene polymorphisms and ADA activity with PCOS

“…There is an extensive body of literature reporting that serum adenosine deaminase activity is influenced by the G22A ADA1 gene polymorphism contributing greater in the GG genotype than both GA and AA genotypes [Battistuzzi et al 1974;Lucarini and Borgiani 1989;Napolioni and Lucarini 2010]. In line with previous studies we showed that within the study population (healthy women and PCOS patients) serum ADA1 and total ADA catalytic activity are greater in subjects with the GG genotype than individuals carrying GA and AA genotypes.…”