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The distributions of seven genetic polymorphisms in patients with Down's syndrome
Author(s) -
Brackenridge C. J.,
Pitt D. B.,
Sheehy A. J.
Publication year - 1974
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.1399-0004.1974.tb01714.x
Subject(s) - phosphoglucomutase , haptoglobin , acid phosphatase , phosphatase , biology , genetics , medicine , microbiology and biotechnology , biochemistry , endocrinology , enzyme
The distributions of serum complement C3, haptoglobin and transferrin and erythrocyte acid phosphatase, adenylate kinase, 6‐phosphogluconate dehydrogenase and phosphoglucomutase 1 polymorphisms were determined in 171 persons with Down's syndrome and in a control group of 200 normal, healthy persons. In Down's syndrome, unusual phenotypic proportions were observed in the haptoglobin and acid phosphatase systems, while deviations from Hardy‐Weinberg equilibrium were found in the complement C3, acid phosphatase and phosphoglucomutase 1 polymorphisms. The proportion of persons with Down's syndrome of acid phosphatase type A declined linearly with age.