Serum and tissue proteins in tuberous sclerosis. I. Serum and red-cell polymorphic systems.
5 serum protein polymorphic systems (haptoglobin, alkaline phosphatase, group-specific (Gc) proteins, beta2-glycoprotein 1 and leucine aminopeptidase) and 6 red-cell polymorphisms (adenosine deaminase, adenylate kinase, phosphoglucomutase, glutamic-pyruvic transaminase, phosphogluconate dehydrogenase and acid phosphatase) have been investigated in 54 subjects with tuberous sclerosis. The frequencies of all systems were compared with those of a control sample drawn from a similar mentally retarded population and abnormal distributions were detected in the haptoglobin and Gc system. Quantitative estimation of the serum levels of the Gc protein failed to detect any inter-group differences. Data on the deviations from the Hardy-Weinberg equlibrium, Haldane's Log ratio test between groups, and gene frequencies of both test and control groups are given. It is suggested that selection by mortality is the possible causation for the abnormal distribution of the Gc phenotypes, but the haptoglobin phenotype distribution requires further investigation with care being taken in the selection of control subjects.
D000135:Acid Phosphatase / Q000097:blood; D000241:Adenosine; D000328:Adult; D000410:Alanine Transaminase / Q000097:blood; D000469:Alkaline Phosphatase / Q000097:blood; D000619:Aminohydrolases / Q000097:blood; D001798:Blood Proteins / Q000032:analysis*; D004912:Erythrocytes / Q000201:enzymology*; D005260:Female; D005787:Gene Frequency; D006023:Glycoproteins / Q000097:blood; D006242:Haptoglobins / Q000032:analysis; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007931:Leucyl Aminopeptidase / Q000097:blood; D008297:Male; D010641:Phenotype; D010733:Phosphoglucomutase / Q000097:blood; D010734:Phosphogluconate Dehydrogenase / Q000097:blood; D010770:Phosphotransferases / Q000097:blood; D011110:Polymorphism, Genetic; D014402:Tuberous Sclerosis / Q000235:genetics*
D001798:Blood Proteins; D006023:Glycoproteins; D006242:Haptoglobins; D010734:Phosphogluconate Dehydrogenase; D000410:Alanine Transaminase; D010770:Phosphotransferases; D000469:Alkaline Phosphatase; D000135:Acid Phosphatase; D007931:Leucyl Aminopeptidase; D000619:Aminohydrolases; D010733:Phosphoglucomutase; D000241:Adenosine