title: Polymorphism of S-adenosylhomocysteine hydrolase in Italy.
abstract: S-adenosylhomocysteine hydrolase (SAHH) polymorphism has been investigated in the Italian population. Three common alleles, SAHH*1, SAHH*2 and SAHH*3, have been observed and the estimated gene frequencies are 0.968, 0.023 and 0.009, respectively. SAHH activity has been assayed in 50 healthy individuals and the mean activity was 0.043 +/- 0.017 mumol uric acid/min/g Hb at 37 degrees C. Five heterozygotes for adenosine deaminase deficiency and three heterozygotes for purine nucleoside phosphorylase deficiency showed SAHH within the range of the normal distribution. The effects of some thiol reagents on red blood cell SAHH electrophoretic pattern have been investigated.
mesh_terms: D000243:Adenosine Deaminase / Q000172:deficiency; D043383:Adenosylhomocysteinase; D004586:Electrophoresis; D004912:Erythrocytes / Q000201:enzymology; D005787:Gene Frequency; D006801:Humans; D006867:Hydrolases / Q000097:blood / Q000235:genetics*; D007558:Italy; D011110:Polymorphism, Genetic; D013439:Sulfhydryl Reagents
chemical_list: D013439:Sulfhydryl Reagents; D006867:Hydrolases; D043383:Adenosylhomocysteinase; D000243:Adenosine Deaminase