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 μmol uric acid/min/g Hb at 37°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.
POLYMORPHISM OF S-ADENOSYLHOMOCYSTEINE HYDROLASE IN ITALY / Corbo, Rosa Maria; R., Palmarino; E., Schiattarella; M. A., Giannini; R., Scacchi. - In: HUMAN HEREDITY. - ISSN 0001-5652. - STAMPA. - 37:3(1987), pp. 186-189. [10.1159/000153698]
POLYMORPHISM OF S-ADENOSYLHOMOCYSTEINE HYDROLASE IN ITALY
CORBO, Rosa Maria;
1987
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 μmol uric acid/min/g Hb at 37°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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
