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A new genetic variant of galactose-1-phosphate uridyl transferase.
Hum Genet. 1976 Dec 29; 35(1):51-5.HG

Abstract

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 enzymatic activity of the different gene products varies within certain limits. A new phenotype of the enzyme has been detected in the red cells of a healthy individual. The electrophoretic migration of this phenotype is slower compared to the wild type and its enzymatic activity is lower, but still sufficient as not to cause galactosemia. An extensive family study revealed that the rare gene is inherited according to mendelian law. Independently the same gene product has been detected in two other, nonrelated individuals out of a total of 1668 samples tested. The gene frequency can therefore be estimated to 0.0009 in the Swiss population. We suggest that the new type be called Berne variant of galactose-1-phosphate uridyl transferase.

Authors

No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

1002164

Citation

Scherz, R, et al. "A New Genetic Variant of Galactose-1-phosphate Uridyl Transferase." Human Genetics, vol. 35, no. 1, 1976, pp. 51-5.
Scherz R, Pflugshaupt R, Bütler R. A new genetic variant of galactose-1-phosphate uridyl transferase. Hum Genet. 1976;35(1):51-5.
Scherz, R., Pflugshaupt, R., & Bütler, R. (1976). A new genetic variant of galactose-1-phosphate uridyl transferase. Human Genetics, 35(1), 51-5.
Scherz R, Pflugshaupt R, Bütler R. A New Genetic Variant of Galactose-1-phosphate Uridyl Transferase. Hum Genet. 1976 Dec 29;35(1):51-5. PubMed PMID: 1002164.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A new genetic variant of galactose-1-phosphate uridyl transferase. AU - Scherz,R, AU - Pflugshaupt,R, AU - Bütler,R, PY - 1976/12/29/pubmed PY - 1976/12/29/medline PY - 1976/12/29/entrez SP - 51 EP - 5 JF - Human genetics JO - Hum. Genet. VL - 35 IS - 1 N2 - 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 enzymatic activity of the different gene products varies within certain limits. A new phenotype of the enzyme has been detected in the red cells of a healthy individual. The electrophoretic migration of this phenotype is slower compared to the wild type and its enzymatic activity is lower, but still sufficient as not to cause galactosemia. An extensive family study revealed that the rare gene is inherited according to mendelian law. Independently the same gene product has been detected in two other, nonrelated individuals out of a total of 1668 samples tested. The gene frequency can therefore be estimated to 0.0009 in the Swiss population. We suggest that the new type be called Berne variant of galactose-1-phosphate uridyl transferase. SN - 0340-6717 UR - https://www.unboundmedicine.com/medline/citation/1002164/A_new_genetic_variant_of_galactose_1_phosphate_uridyl_transferase_ DB - PRIME DP - Unbound Medicine ER -