Genetic studies of low-abundance human plasma proteins. VI. Polymorphism of hemopexin.
An analytical isoelectric focusing method in 3 M urea followed by immunoblotting has been devised to detect genetic and biochemical variation in the glycoprotein hemopexin (HPX) in human plasma or serum. HPX reveals extensive microheterogeneity with multiple major and minor components that are susceptible to neuraminidase treatment, suggesting that the observed biochemical variation is due to differences in sialic acid content between HPX isoproteins. However, charge differences that persist in HPX isoproteins following neuraminidase treatment suggest the presence of genetically determined HPX variation, and this is confirmed by population and family studies. HPX was found to be monomorphic, with an invariant pattern, in U.S. whites; but it is polymorphic in U.S. blacks, with three alleles controlled by a single locus, a situation that demonstrates an autosomal codominant pattern of inheritance. The HPX 1, HPX 2, and HPX 3 allele frequencies in U.S. blacks are .941, .018, and .041, respectively.
Kamboh
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MI
Department of Biostatistics, Graduate School of Public Health, University of Pittsburgh, PA 15261.
Ferrell
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RE
D000483:Alleles; D005260:Female; D005787:Gene Frequency; D006466:Hemopexin / Q000235:genetics*; D006801:Humans; D007525:Isoelectric Focusing; D008297:Male; D010375:Pedigree; D011110:Polymorphism, Genetic
D006466:Hemopexin