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Reliable phenotyping of alpha-1-antitrypsin by hybrid isoelectric focusing in an ultranarrow immobilized pH gradient

✍ Scribed by PD Dr. Sebastian Weidinger

Publisher: John Wiley and Sons
Year: 1992
Tongue: English
Weight: 675 KB
Volume: 13
Category: Article
ISSN: 0173-0835
DOI: 10.1002/elps.1150130148

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✦ Synopsis

Genetically determined phenotypes of the highly polymorphic human alpha,antitrypsin were examined by hybrid isoelectric focusing in a narrow immobilized pH gradient. The chosen pH range from 4.45 to 4.75 was useful for identification and classification of the common PI M subtypes and a number of PI variants in the microheterogeneous regions of m6, m7, and m8. A high degree of resolution and an improved sharpness of PI bands was achieved with this excellent technique. It allowed the distinction of a new PI M variant, which has been designated M8, or Mingolstadt, according to the PI nomenclature. The pldifference of this mutant to the slightly cathodically located subtype M3 is approximately 0.001 pH unit. In addition, some common as well as rare phenotypes are presented.

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