Population genetics of red cell galactose-1-phosphate-uridyl-transferase (EC: 2.7.7.12)
✍ Scribed by S. Bissbort; J. Kömpf
- Publisher
- Springer
- Year
- 1972
- Tongue
- English
- Weight
- 164 KB
- Volume
- 17
- Category
- Article
- ISSN
- 0340-6717
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A newly developed electrophoretic technique for human galactose-1-phosphate uridyl transferase confirms the multiple band patterns for the Duarte and Los Angeles variants. This represents the first confirmation for the Los Angeles variant. The observed frequencies of N, D, and LA types are similar t
Enzymatic activity and electrophoretic mobility of galactose-1-phosphate uridyltransferase (EC 2.7.7.12) were assayed in a Mexican family (8 sibs and their parents) with two galactosemic members. Normal, galactosemic and Los Angeles enzyme variants were identified. A survey of the ethnological backg
Isoelectric focusing (IEF) in polyacrylamide gels has been used to study the isozymes of human galactose-1-phosphate uridylyltransferase (GALT) in erythrocytes and fibroblasts. In addition to the usefulness of IEF in differentiating normal, Duarte variant, and galactosemic homozygotes and heterozygo