Rare phenotypes of alpha-1 antitrypsin: study of a case of the M1X variant

Rare phenotypes of alpha-1 antitrypsin: study of a case of the M1X variant

Alpha-1 antitrypsin is the major component responsible for the normal alpha 1 band in human serum. Some genetic variants giving double alpha-1 band, may be associated with pathological process. In the course of a systematic screening of blood donors a double-band alpha-1 pattern was observed in a se...

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Veröffentlicht in:Revue française de transfusion et immunohématologie 1986-10, Vol.29 (5), p.333
Hauptverfasser: Seger, J, Marneux, M, Rochu, D, Sesboué, R, Fine, J M, Salmon, C
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Adult
alpha 1-Antitrypsin - genetics
Female
Genetic Variation
Humans
Phenotype
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container_issue 5
container_start_page 333
container_title Revue française de transfusion et immunohématologie
container_volume 29
creator Seger, J
Marneux, M
Rochu, D
Sesboué, R
Fine, J M
Salmon, C
description Alpha-1 antitrypsin is the major component responsible for the normal alpha 1 band in human serum. Some genetic variants giving double alpha-1 band, may be associated with pathological process. In the course of a systematic screening of blood donors a double-band alpha-1 pattern was observed in a serum, due to the heterozygous expression of a genetic variant of the PI system. A possible clinical significance of the variant was investigated by characterizing it. The very rare allotype PI*X was identified and its frequency in the population of french blood donors was estimated around to one for 10,000.
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ispartof Revue française de transfusion et immunohématologie, 1986-10, Vol.29 (5), p.333
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source MEDLINE; Alma/SFX Local Collection
subjects Adult
alpha 1-Antitrypsin - genetics
Female
Genetic Variation
Humans
Phenotype
title Rare phenotypes of alpha-1 antitrypsin: study of a case of the M1X variant
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