Read e-book online Human Genetic Variation in Response to Medical and PDF

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By A. G. Motulsky (auth.), Prof. Dr. Friedrich Vogel, Dr. Werner Buselmaier, Dr. Walter Reichert, Dr. Gottfried Kellermann, Dr. Peter Berg (eds.)

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Extra resources for Human Genetic Variation in Response to Medical and Environmental Agents: Pharmacogenetics and Ecogenetics

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On the basis of these data, it could be concluded that possible mutational changes involving amino acid exchange in certain peptides at the active site observed by us for the dibucaine-resistant atypical variant are not identical in the new variant. The acidic character of the radioactive peptides appears not to be altered very much, perhaps due to an exchange of an acidic amino acid through another acidic amino acid. Another possibility is, that analogous to C; and F variant, the 'new succinyldicholine variant' might represent a group of variants where the esteratic site might be less affected and other peptides not binding with DFP are largely mutated.

Amino acid substitution (histidine to tyrosine) in a glucose-6-phosphate dehydrogenase variant (G6PD Hektoen). J. Mo!. BioI. : Hemolytic anemia and G6PD deficiency. , Motulsky, A. : Biochemical genetics of glucose-6phosphate dehydrogenase variation. Ann. NY Acid. Sci. Kahn Discussion Motu/sky: I would like to point to the important conceptual significance of G6PD in the recent history of human biochemical genetics. It played an important role in the malaria hypothesis, since it was shown that the G6PD-deficient red cell cannot maintain a normal growth of the malarial organism.

Different actlVltles and inhibition profiles with dibucaine in the presence of succinyldicholine as substrate. We carried out peptide mapping of purified preparations. About 200 ml serum each from three patients with the new variant and an usual type as control were processed as mentioned before. In Figure 6 the autoradiogram of the labeled peptides is presented: the U type shows four major peptides and two minor bands. One of the bands corresponds to unreacted DFP. The variants named here as B, C, and D gave up to four bands of variable intensity.

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