Identification of a polymorphic AS marker in human serum. Evidence of a linkage imbalance to the beta thalassemic locus
De Benedictis, G.
Bollettino della Societa Italiana di Biologia Sperimentale 57(22): 2209-2214
1981
ISSN/ISBN: 0037-8771 PMID: 6798980 Document Number: 181321
Radial Immuno Diffusion performed by including in agar serum from a polytransfused Cooley patient (beta-thalassemic homozygous) allowed to identify a human serum antigen marker of an autosomal polymorphic locus. the antigen and its coding gene were named AS and AS respectively. Genetic tests indicate that the AS1 dominant allele codes for the presence of AS in the serum while the AS0 recessive allele codes for its absence. The frequency of the AS0/AS0 homozygous genotype results to be greater in Cooley than in healthy people thus suggesting that the AS0 and beta-thal alleles may be in linkage disequilibrium. The observation that the frequency of the AS0 beta-thal haplotype is greater than the product of the frequencies of the alleles which form it, confirms such a linkage.