Polymorphism of Erythrocyte Galactose-1-Phosphate Uridyl-Transferase in Italy: Segregation Analysis in 693 Families

In the course of a population study in Italy, blood samples collected from 802 unrelated newborns and both their parents (when possible) have been examined for galactose-1-phosphate uridyltransferase (GALT) polymorphism. Electrophoresis and quantitative assay of GALT activity were not always suffici...

Full description

Saved in:
Bibliographic Details
Published in:Human heredity 1984-01, Vol.34 (4), p.197-206
Main Authors: Vaccaro, A.M., Mandara, I., Muscillo, M., Ciaffoni, F., De Pellegrin, S., Benincasa, A., Novelletto, A., Terrenato, L.
Format: Article
Language:English
Subjects:
Adult
Anthropology. Demography
Biological and medical sciences
Blood Protein Electrophoresis
Erythrocytes - enzymology
Female
Fundamental and applied biological sciences. Psychology
Galactosemias - blood
Galactosemias - enzymology
Galactosemias - genetics
Gene Frequency
Genetics of eukaryotes. Biological and molecular evolution
Human
Human physiology applied to population studies and life conditions. Human ecophysiology
Humans
Infant, Newborn
Italy
Male
Medical sciences
Nucleotidyltransferases - genetics
Original Paper
Original Papers
Pedigree
Polymorphism, Genetic
Population genetics, reproduction patterns
UDPglucose-Hexose-1-Phosphate Uridylyltransferase - genetics
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:In the course of a population study in Italy, blood samples collected from 802 unrelated newborns and both their parents (when possible) have been examined for galactose-1-phosphate uridyltransferase (GALT) polymorphism. Electrophoresis and quantitative assay of GALT activity were not always sufficient for an accurate identification of the different GALT genotypes; segregation analysis provided better criteria for classification. A parent-child correlation coefficient for GALT activity equal to 0.107-0.155 was found when only the transmission of the normal alíele was concerned, but the correlation rose to 0.618-0.682 when the Duarte and Los Angeles alíeles were segregating. This confirmed the existence of a low (Duarte) and high (Los Angeles) activity variant. The overall validity of our genotype classification is supported by the good agreement between observed and expected mating types and segregations. The following gene frequencies were found for the different alleles: N = 0.9192, G = 0.0036, D = 0.0372 and LA = 0.0400.
ISSN:0001-5652
1423-0062
DOI:10.1159/000153463