Common and rare genetic variants of human red blood cell enzymes in Italy

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...

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Bibliographic Details
Published in:Anthropologischer Anzeiger 1989-06, Vol.47 (2), p.155-174
Main Authors: Biondi, G., Calabró, V., Colonna-Romano, S., Giangregorio, M., Malaspina, P., Petrucci, R., Santolamazza, C., Santolamazza, P., Tramontano, E., Battistuzzi, G.
Format: Article
Language:English
Subjects:
Acid Phosphatase - genetics
Adenylate Kinase - genetics
Alanine Transaminase - genetics
Alleles
Aminohydrolases - genetics
Electrophoresis
Enzymes
Enzymes - genetics
Erythrocytes
Erythrocytes - enzymology
Esterases - genetics
Gene Frequency
Genetic Carrier Screening
Genetic heterogeneity
Genetic Variation
Genetics, Population
Glucose-6-Phosphate Isomerase - genetics
Human genetics
Humans
Italy
Originalarbeiten
Phenotypes
Phosphatases
Phosphoglucomutase - genetics
Phosphogluconate Dehydrogenase - genetics
Population genetics
Superoxide Dismutase - genetics
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Summary: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). In der vorliegenden Untersuchung werden neue Frequenzdaten bezüglich der häufigen und seltenen Varianten der Polymorphen Enzymsysteme ADA, AK-1, 6-PGD, EsA, EsB, EsD, PGM-1, PGM-2, SOD-A, SEP, GPT und PGI in der italienischen Bevölkerung mitgeteilt. Außerdem wird eine umfassende Übersicht über die elektrophoretischen Enzymvarianten in Italien gegeben. Daraus ergibt sich eine beträchtliche genetische Heterogenität zwischen den verschiedenen Subpopulationen auf der italienischen Halbinsel sowie zwischen der Bevölkerung dieser und derjenigen Sardiniens. Schätzungen der average heterozygosity zeigen für Sardinien beträchtlich geringere Werte als für die Halbinsel bzw. für Sizilien. Schließlich wird über die Häufigkeit verschiedener seltener Enzymvarianten berichtet, die insgesamt der für nordeuropäische Bevölkerungen (Harris et al. 1974) entspricht.
ISSN:0003-5548