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Improved isoelectric focusing of normal and variant forms of erythrocyte galactose‐1‐phosphate uridyl transferase
Author(s) -
Vaccaro Anna M.,
Muscillo Michele,
Mandara Ida,
Salvioli Rosa
Publication year - 1982
Publication title -
electrophoresis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.666
H-Index - 158
eISSN - 1522-2683
pISSN - 0173-0835
DOI - 10.1002/elps.1150030111
Subject(s) - isoelectric focusing , galactosemia , chemistry , isoelectric point , pi , chromatography , isozyme , microbiology and biotechnology , galactose , enzyme , biochemistry , biology
Abstract An improved isoelectric focusing (IEF) technique has been developed and used to detect the erythrocyte galactose‐1‐phosphate 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, classified according to electrophoresis as Duarte or Los Angeles homozygotes, showed the same IEF pattern composed of four bands with pI's between 5.60 and 5.90. The Duarte‐normal and Los Angelesnormal heterozygotes gave an IEF pattern of 4‐5 bands (pI 5.60‐6.08), with relative intensities that varied according to their activity.

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