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Assay of <i>α</i>‐<i>N</i>‐Acetylgalactosaminyltransferases in Human Sera: Further Evidence for Several Types of A<sub>m</sub> Individuals
49
Citations
26
References
1975
Year
Human SeraGeneticsImmunologyGlycobiologyPathologyHuman PolymorphismSeveral TypesClinical GeneticsGenetic AnalysisBioanalysisHematologyClinical ChemistryPublic HealthMolecular DiagnosticsFurther EvidenceStatistical GeneticsAllelic VariantMolecular Diagnostic TechniquesGenetic DisorderA1 SubjectsMedicineA2 GeneA2 Subjects
The study of the alpha-N-acetylgalactosaminyltransferase in the sera of 19 individuals belonging to the rare Am blood group makes it possible to confirm the heterogeneity of this phenotype established on genetical and immunological criteria. Two groups of subjects, Am and Ay, can be distinguished. For the individuals of the first group, named Am, 15 samples (7 families) have been studied, the phenotype is inherited as an allele at the ABO locus. 14 of these subjects, have an alpha-N-acetylgalactosaminyltransferase whose kinetic properties were similar to those of A1 subjects. In one family, however, the A transferase detected is of the A1 type. On a quantitative level, the enzyme activities of these sera only reached 30-50 percent of the average value observed for A1 or A2 subjects, respectively. These facts suggest the existence of a genetic inhibitor, possibly linked to the ABO locus, preventing either an A1 or A2 gene from acting at the level of some cellular lines and leading therefore to the recognition of phenotypes named A-m-A1 and A-m-A2. On the contrary, under the experimental conditions used, no alpha-N-acetylgalactosaminyl-transferase activity was detected among the four individuals of the second group, named A-y by Weiner et al. (37), and whose appeareance in siblings results from the action of a recessive modifying y-A gene.
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