title: Common and rare genetic variants of human red blood cell enzymes in Italy.
abstract: In the present paper we report on new data of the frequency of common and rare variants in the Italian population for ADA, AK-1, 6-PGD, EsA, EsB, EsD, PGM-1, PGM-2, SOD-A, AcP, GPT, and PGI. Moreover we present a comprehensive review of the available data on the electrophoretic variants of red cell enzymes in Italians. We find a considerable degree of genetic heterogeneity between the various populations living in the Peninsula and between the population of the Peninsula and of Sardinia. We also find that the estimates of the average heterozygosity are considerably smaller for the population of Sardinia as compared to Peninsula and Sicily. Finally, we report on the occurrence of several uncommon enzyme variants, which overall frequency is very similar to previously reported estimates for North European populations (Harris et al. 1974).
authors.affiliation: Dipartimento di Biologia Animale e dell'Uomo, Università di Roma, La Sapienza, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Biondi
authors.forename: V
authors.initials: V
authors.lastname: Calabró
authors.forename: S
authors.initials: S
authors.lastname: Colonna-Romano
authors.forename: M
authors.initials: M
authors.lastname: Giangregorio
authors.forename: P
authors.initials: P
authors.lastname: Malaspina
authors.forename: R
authors.initials: R
authors.lastname: Petrucci
authors.forename: C
authors.initials: C
authors.lastname: Santolamazza
authors.forename: P
authors.initials: P
authors.lastname: Santolamazza
authors.forename: E
authors.initials: E
authors.lastname: Tramontano
authors.forename: G
authors.initials: G
authors.lastname: Battistuzzi
mesh_terms: D000135:Acid Phosphatase / Q000235:genetics; D000263:Adenylate Kinase / Q000235:genetics; D000410:Alanine Transaminase / Q000235:genetics; D000619:Aminohydrolases / Q000235:genetics; D004798:Enzymes / Q000235:genetics*; D004912:Erythrocytes / Q000201:enzymology*; D004950:Esterases / Q000235:genetics; D005787:Gene Frequency; D006580:Genetic Carrier Screening; D014644:Genetic Variation; D005828:Genetics, Population; D005956:Glucose-6-Phosphate Isomerase / Q000235:genetics; D006801:Humans; D007558:Italy; D010733:Phosphoglucomutase / Q000235:genetics; D010734:Phosphogluconate Dehydrogenase / Q000235:genetics; D013482:Superoxide Dismutase / Q000235:genetics
chemical_list: D004798:Enzymes; D010734:Phosphogluconate Dehydrogenase; D013482:Superoxide Dismutase; D000410:Alanine Transaminase; D000263:Adenylate Kinase; D004950:Esterases; D000135:Acid Phosphatase; D000619:Aminohydrolases; C018774:adenine deaminase; D005956:Glucose-6-Phosphate Isomerase; D010733:Phosphoglucomutase