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 greater than ADA 2-1 greater than ADA 2 greater than ADA 5-1.

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