The enzyme galactose-1-phosphate uridyl transferase (E.C.2.7.7.12), which has an important function in the metabolism of galactose, exists in multiple molecular forms. The different phenotypes are genetically determined. They can be distinguished according to their electrophoretic mobility. The enzy
Variants of galactose-1-phosphate uridyl transferase in the Greek populations
β Scribed by A. Thomakos; E. Beutler; G. Stamatoyannopoulos
- Publisher
- Springer
- Year
- 1977
- Tongue
- English
- Weight
- 260 KB
- Volume
- 36
- Category
- Article
- ISSN
- 0340-6717
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β¦ Synopsis
The frequency of variants of galactose-1-phosphate uridyl transferase was determined among the nine Greek populations by studying a sample of 1570 unselected individuals. Average frequency of normal allele GALT=0.942, galactosemia gen GALTG=0.0021 and the Duarte variant gene GALTD=0.0548 were observed. Frequency of galactosemia heterozygotes among Greeks was similar to that in other Caucasian populations, but the frequency of the Duarte variant was considerably higher. With the exception of two populations, one with low (Epirus) and one with high (Thrace) frequencies, the polymorphism of the Duarte variant displays very similar frequencies in the various Greek population groups.
π SIMILAR VOLUMES
Galactosemia is an inborn error of galactose metabolism secondary to deficiency of galactose-1-phosphate uridyl transferase (GALT). GALT is a polymorphic enzyme and Duarte (D) is the most common enzyme variant. This variant is characterized by faster electrophoretic mobility and reduced activity. Du
## Abstract An improved isoelectric focusing (IEF) technique has been developed and used to detect the erythrocyte galactoseβ1βphosphate uridyl transferase isoenzymes. The normal enzyme was resolved by IEF in four bands with isoelectric points (pI) between 5.80 and 6.08. Numerous samples, classifie