Summary
A new rare genetic variant PI Poki in the protease inhibitor system found in two Japanese subjects, was compared with some PI P variants using several electrophoresis systems. Although this variant was slightly anodal to P by separator isoelectric focusing, it could be readily distinguished by isoelectric focusing with immobilized pH gradients: the mobility of Poki became cathodal to P. This method proved to be a powerful tool for identification of PI variants.
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Bjellqvist B, Ek K (1982) High resolution analytical electrofocusing in polyacrylamide gels with ultra-narrow Immobiline pH gradients. LKB Application Note No. 321
Bjellqvist B, Ek K, Righetti PG, Gianazza E, Görg A, Westermeier R, Postel W (1982) Isoelectric focusing in immobilized pH gradients: Principle, methodology and some applications. J Biochem Biophys Methods 6:317–339
Carrell RW, Jeppsson J-O, Laurell C-B, Brennan SO, Owen MC, Vaughan L, Boswell DR (1982) Structure and variation of human α1-antitrypsin. Nature 298:329–334
Cleve H, Patutschnick W, Postel W, Weser J, Görg A (1982) Analysis of the genetic variants of the human Gc system (VDBP) by iso-electric focusing in immobilized pH gradients. Electrophoresis 3:342–345
Cox DW, Smyth S, Billingsley G (1982) Three new rare variants of α1-antitrypsin. Hum Genet 61:123–126
Fagerhol MK, Braend M (1965) Serum prealbumin: Polymorphism in man. Science 149:986–987
Fagerhol MK, Hauge HE (1968) The Pi phenotype MP. Discovery of a ninth allele belonging to the system of inherited variants of serum α1-antitrypsin. Vox Sang 15:396–400
Görg A, Postel W, Weser J, Weidinger S, Patutschnick W, Cleve H (1983a) Isoelectric focusing in immobilized pH gradients for the determination of the genetic Pi (α1-antitrypsin) variants. Electrophoresis 4:153–157
Görg A, Weser J, Westermeier R, Postel W, Weidinger S, Patutschnick W, Cleve H (1983b) Isoelectric focusing with immobilized pH gradients for the analysis of transferrin (Tf) subtypes and variants. Hum Genet 64:222–226
Hug G, chuck G, Slemmer TM, Fagerhol MK (1980) Pi Ecincinnati: A new alpha1-antitrypsin allele in three Negro families. Hum Genet 54:361–364
Laurell C-B, Eriksson S (1963) The electrophoretic α1-globulin pattern of serum in α1-antitrypsin deficiency. Scand J Clin Lab Invest 15:132–140
Miyake K, Suzuki H, Oka H, Oda T, Harada S (1979) Distribution of α1-antitrypsin phenotypes in Japanese: Description of Pi M subtypes by isoelectric focusing. Jinrui Idengaku Zasshi 24:55–62
Miyake K, Torii M, Itokazu K, Itoh Y, Ohkuni A, Nakamura T, Yamakawa M (1983) 336-4 phenotypes in Japanese. (IV) Description of some new Pi variants. Jinrui Idengaku Zasshi 28:120
Weidinger S, Cleve H (1984) High resolution of alpha-1-antitrypsin PI M subtypes by isoelectric focusing with a modified immobilized pH gradients. Electrophoresis 5:223–226
Ying Q-L, Liang C-C, Zhang M-L (1984) PI*LBEI and PI*JHOU: Two new alpha-1-antitrypsin alleles. Hum Genet 68:48–50
Yuasa I, Suenaga K, Gotoh Y, Ito K, Yokoyama N, Okada K (1984) PI (336-5) polymorphism in the Japanese: Confirmation of PI*M4 and description of new variants. Hum Genet 67:209–212
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Yuasa, I., Okada, K. A new α1-antitrypsin allele PI*Poki: Isoelectric focusing with immobilized pH gradients as a tool for identification of PI variants. Hum Genet 70, 333–336 (1985). https://doi.org/10.1007/BF00295372
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DOI: https://doi.org/10.1007/BF00295372