Dépistage des variants génétiques de l'alpha-1-antitrypsine par électrophorèse capillaire sur Paragon ® CZE 2000

Abstract

To study the ability of Beckman Paragon ® CZE 2000 capillary electrophoresis system to detect the genetic variants of alpha-1-antitrypsin (A1AT) we have scrutinized the A1AT peak of 7312 consecutive scans. Out of the 94 selected sera, 60 presented with a flattening or a lowering of the peak: there were 6 Z, 11 SZ, 29 heterozygous for an allele giving a protein with either Z or S mobility and 14 M. Among the 34 samples exhibiting a splitting of the A1AT peak, there were 12 FM, 1 IS, 14 MV, 2 MX and 2 MY. Comparison between the PI types distribution of the 94 sera and a reference population of 4575 subjects demonstrates that CZE ® enables the detection of all heterozygous phenotypes resulting in two proteins with different mobilities (FM, MV, MX, MY). Moreover, the technique allows the detection of all the phenotypes associated with a severe deficiency in A1AT, namely Z and SZ.