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Pi phenotypes of alpha 1 ‐antitrypsin in Southern England: Identification of M subtypes and implications for genetic studies
Author(s) -
Arnaúd Philippe,
Galbraith Robert M.,
Faulk W. Pagé,
Black Carol
Publication year - 1979
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1979.tb01772.x
Subject(s) - phenotype , genetics , isoelectric focusing , allele , biology , polymorphism (computer science) , population , medicine , gene , biochemistry , environmental health , enzyme
Phenotypes of alpha r antitrypsin (A 1 AT) were determined by isoelectric focusing in blood samples from 926 healthy Caucasians living in South‐West England. Three subtypes of the most common allele product (M), designated Ml, M2, and M3, were identified. Routine determination of these subtypes should considerably amplify the usefulness of the A 1 AT polymorphism in population genetics and, in view of the possible association of clinical disorders with heterozygous deficient M phenotypes, may enhance the value of Pi determinations in clinical genetics.