Prevalence of partial deficiency of red cell triosephosphate isomerase in Germany — a study of 3000 people |
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Authors: | Stefan W Eber Manfred Dünnwald Günter Heinemann Thomas Hofstätter Hans M Weinmann Bernd H Belohradsky |
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Institution: | (1) Institut für Physiologische Chemie, Physikalische Biochemie und Zellbiologie, Universität München, Germany;(2) Deutsches Herzzentrum München, Germany;(3) Kinderklinik Bremen, Germany;(4) Kinderklinik der Technischen Universität München, Germany;(5) Universitäts-Kinderklinik München, Germany;(6) Present address: Universitäts-Kinderklinik, Humboldtallee 38, D-3400 Göttingen, Germany |
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Abstract: | Summary During a heterozygote screening of nearly 3000 persons, triosephosphate isomerase (TPI) deficiencies in erythrocytes were discovered in 11 unrelated persons, showing a residual activity between 39 and 76% of normal activity. Extensive genealogic studies were performed to confirm that these persons with TPI deficiency were heterozygous carriers. The total heterozygote frequency of triosephosphate isomerase deficiencies was 3.7/1000.The persons with heterozygous deficiency could be divided into two categories. Subjects of category I had a mean residual activity of 49% of the expected normal activity and were represented by a frequency of 1.3/1000. Subjects of category II had a mean residual activity of 67% of the expected normal activity and were represented by a frequency of 2.4/1000. None of the heterozygous persons showed an electrophoretic variant. The immunologic specific activity was normal with one exception. Therefore, we assume that in many cases of our heterozygous TPI-deficiencies a TPI protein with a normal specific activity is synthesized to a diminished degree. |
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