[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 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.
D000328:Adult; D005260:Female; D014644:Genetic Variation; D006801:Humans; D010641:Phenotype; D000515:alpha 1-Antitrypsin / Q000235:genetics*
D000515:alpha 1-Antitrypsin
Phénotypes rares de l'alpha-1 antitrypsine: étude d'un cas de variant M1X.