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111.
Amniocentesis and subsequent tests are reported on a fetus conceived of a rare mating type: its mother has an intermediate level of β hexosaminidase A (HEX A), characteristic of carriers of Tay-Sachs disease (TSD), while the father suffers from an adult-onset GM2 ganglio-sidosis (AOG) with severe HEX A deficiency. Activity of HEX A in the cultured fetal cells was very low when measured by the heat-inactivation method, thus showing the typical biochemical phenotype of TSD fetuses. However, upon separation of HEX isozymes by ion exchange chromatography, residual HEX A (17 per cent of total HEX) was demonstrated. Also in contrast to TSD fetuses, this fetus' fibroblasts were able to synthesize the precursor of a chains of HEX, and ultrastructural examination of its brain revealed few atypical lamellar bodies, unlike those found in TSD fetuses of the same gestational age. It is therefore concluded that the fetus was not affected with TSD, but rather with AOG. 相似文献
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R. Geiger 《Die Naturwissenschaften》1984,71(5):252-258
Peptide chemistry has reached a plateau on which more work is devoted to the improvement of known basic principles than to the development of really new methods. As a consequence, routine syntheses of peptides concentrate on few protecting groups and coupling procedures only. The recent progress in purification of peptides by liquid chromatography helped to promote this trend. Meanwhile, recombinant technology permits the synthesis of proteins and possibly of some lower peptides, too. It cannot compete, however, with chemical solid-phase synthesis of a newly discovered peptide with up to about 40 amino acids in speed but may take over the synthesis for large-scale production. Peptides containing modified or non-natural structures, which are often superior to the natural compounds as drugs, will remain subject of chemical synthesis, too. Present research focuses on the role of peptide and protein factors in the immune response and on structure and biological activities of neuropeptides. 相似文献
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