The genetics of α1‐antitrypsin: a family study in England and Scotland
- 1 January 1975
- journal article
- Published by Wiley in Annals of Human Genetics
- Vol. 38 (3), 275-287
- https://doi.org/10.1111/j.1469-1809.1975.tb00611.x
Abstract
The results of Pi typing 5237 unrelated Caucasians are presented, together with the phenotypes of 2203 children from 1156 families. The estimate of the gene frequencies in the United Kingdom are Pi-M equal 0-9303, Pi-S equal 0-050, Pi-Z equal 0-0141, Pi-minus equal 0-0015, Pi-V equal 0-0004. Evidence for three new alleles, Pi-W2, Pi-Y2 is presented. The results of twin studies and quantitative studies are discussed.Keywords
This publication has 32 references indexed in Scilit:
- Alpha- 1 -antitrypsin deficiency and pulmonary emphysema: The role of proteolytic enzymes and their inhibitorsRespiratory Medicine, 1973
- Population Genetic Studies of Serum Protein Polymorphisms in four Spanish PopulationsHuman Heredity, 1973
- -Antitrypsin Deficiency and Neonatal HepatitisBMJ, 1972
- Alpha1 antitrypsin deficiency and pulmonary emphysemaThorax, 1971
- Obstructive lung disease in hereditary alpha 1-antitrypsin deficiencyPublished by American Medical Association (AMA) ,1970
- Electrophoretic Variation of Human Serum α1-antitrypsin in JapanJournal of the Anthropological Society of Nippon, 1970
- Serum Pi Types in Some Lappish and Finnish PopulationsHuman Heredity, 1969
- Genetics of the Pi Serum TypesHuman Heredity, 1969
- Serum Prealbumin: Polymorphism in ManScience, 1965
- A New Abnormal Serum Globulin alpha1-Antitrypsin.Acta Chemica Scandinavica, 1963