Author/Editor		Joković, Živa; Babič, Katja; Logar-Car, Gordana; Osredkar, Joško
Title		Določanje fenotipov alfa-1-antitripsina z izoelektričnim fokusiranjem
Translated title		The determination of alpha-1- antitrypsin phenotypes by isoelectric focusing
Type		članek
Source		Zdrav Vestn
Vol. and No.		Letnik 65, št. 10
Publication year		1996
Volume		str. 549-51
Language		slo
Abstract		Backgraund. The purpose of the work was to introduce the method in our clinical chemistry routine to enable fenotyping of alfa-a-antitrypsin (A1AT) in serum. Phenotypes determination is important for early fiagnose, proof and exclusion the other reasons in lung emphysema and liver disease. Methods. Isoelectrofocusing on polyacrylamide-gel (PAG) enables the resolution of the most common genetic variants of A1AT, which differ in only one amino acid or/and in side chain composition of carbohydrate moiety. Separated proteins were identified by immunofixation. Results. In patients' samples from Pediatric Gastroenterology Clinic in Ljubljana and in random laboratory samples in which A1AT determination was required (n=55), different phenotypes were found MZ (n=13), ZZ (n=6), MS (n=1), SZ (n=1), MM (n=20) and M in combination with rapidly migrating variants (n=4). In ten (n=10) samples recognition of phenotypes was uncertain. The method is not sensitive and accurate enough for typing variant M1, subclasses of M. Null and many others less frequent variant. Conclusions. There are no data about A1AT phenotype frequency in Slovenia. The ethod introduced is the beginning to approach it. We shell have to use also the methods of molecular biology in further work.
Descriptors		ALPHA 1-ANTITRYPSIN PHENOTYPE ISOELECTRIC FOCUSING CHILD