Distribution of Alpha-1-Antitrypsin Phenotypes in Sweden

Abstract

The distribution of phenotypes of alpha-1-antitrypsin (Pi) in 1,062 unrelated Swedes was determined by isoelectric focusing with carrier ampholytes. The frequencies calculated were: Pi^M1 = 0.6940, Pi^M2 = 0.1384, Pi^M3 = 0.1139, P^iz= 0.0231, P^is = 0.0245, P^iF = 0.0038, Pi^var = 0.0024. A mother-child material consisting of 194 pairs is also presented.

Estimated numbers and prevalence of PI*S and PI*Z alleles of α1-antitrypsin deficiency in European countries

“…Selected studies were distributed as follows: one each from Austria [13], Belgium [14], Latvia [18], Hungary [34], SerbiaMontenegro [62], Sweden [67] and Switzerland [68]; two each from Denmark [15,16], Estonia [17,18] and Lithuania [18,41]; three each from Portugal [53][54][55][56] and the UK [69][70][71]; four each from Finland [19][20][21][22], the Netherlands [42][43][44], Norway [45][46][47] and Spain [62][63][64][65][66]; five each from Russia [57][58][59][60][61] and Germany [29][30][31][32][33]; six from Poland [48][49][50][51]…”

Genetic structure of Quechua-speakers of the Central Andes and geographic patterns of gene frequencies in South Amerindian populations

“…Hp were typed by electrophoresis on an polyacrylamide gel, followed by staining with benzidine (slightly modified version from Grunbaum, 1981). The phenotypes of Pi were determined by isoelectric focusing (IEF) on thin-layer polyacrylamide gel, protein fixation with a sulfosalicylic acid solution, and subsequent staining with Coomassie Blue, according to Hjalmarsson (1988).…”

1-Antitrypsin deficiency {middle dot} 1: Epidemiology of 1-antitrypsin deficiency

“…[14][15][16][17][18][19][20] The results of mass screening of the whole population of neonates in Sweden performed over a 2 year period were published in 1976. 21 Of the 200 000 infants screened, 129 had the PI*Z variant, yielding a frequency of 1 in 1550 individuals and a gene frequency of 0.026.…”