Hug G, Chuck G, Fagerhol M K
J Med Genet. 1981 Feb;18(1):43-5. doi: 10.1136/jmg.18.1.43.
Serum specimens from eight females and two males representing three generations of an American Negro family exhibited an α-antitrypsin phenotype that we labelled MPclifton because of its electrophoretic mobility. The family study and examination of multiple specimens from the same subject indicated that the phenotype represented an α-antitrypsin allele, labelled Pi. The new genetic variant is not associated with deficiency of α-antitrypsin or of trypsin inhibitory capacity in the serum.
来自一个美国黑人家庭三代人的八名女性和两名男性的血清标本,呈现出一种α-抗胰蛋白酶表型,由于其电泳迁移率,我们将其标记为MPclifton。对该家庭的研究以及对同一受试者多个标本的检测表明,该表型代表一种α-抗胰蛋白酶等位基因,标记为Pi。这种新的基因变体与血清中α-抗胰蛋白酶缺乏或胰蛋白酶抑制能力缺乏无关。