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Biomedical subjects

H W Goedde

Publications and source records attributed to H W Goedde.

At least 181 records · Page 10Linked to original sources
PubMed1977

Genetic heterogeneity of hypoxanthine-phosphoribosyl transferase in human fibroblasts of 3 families.

Incorporation of hypoxanthine, resistance to 8-azaguanine and activation by lyophilisation have been studied in cultured human fibroblasts. Cells from one family where there was a boy with Lesch-Nyham syndrome, from two families with variant H-PRT mutations and three cell strains from patients with the Lesch-Nyham syndrome were investigated. Cells from patients with the Lesch-Nyham syndrome showed almost no hypoxanthine incorporation and resistance to concentrations of 8-azaguanine up to 10(-3) M, whereas cells of patients with partial H-PRT deficiency demonstrated variant patterns of hypoxanthine uptake and partial resistance to 8-azaguanine. Lyophilisation of fibroblast sediment from patients with the Lesch-Nyhan syndrome and patients with variant H-PRT mutations showed activation of the deficient or partially deficient H-PRT enzyme. No such activation was observed in healthy controls. Activation of lyophilised fibroblast extract from patients and controls was not obtained. These results suggest that H-PRT could be associated with the cell membranes.

Azaguanine↗
PubMed1977

Heterogeneity in maple syrup urine disease: aspects of cofactor requirement and complementation in cultured fibroblasts.

Fibroblast strains derived from six patients with maple syrup urine disease have been investigated for their requirements of the cofactors NAD, CoASH, Mg++ and TPP in comparison with 10 normal control strains. The reconstitution of the decarboxylase function of branched chain alpha-keto acid (BCKA) dehydrogenase complex in lysed cells was studied with respect to the substrates alpha-keto-isocaproic acid, alpha-keto-isovaleric acid, and alpha-keto-beta-methylvaleric acid (KIC, KIVA, MEVA). The enzyme activity of all normal control strains for the substrates KIC and KIVA was not reconstituted by TPP + Mg++ alone, but CoASH + NAD could reconstitute the enzyme activity with KIC and KIVA in different degrees. Only two control strains were tested with MEVA as substrate, and these showed in contrast that TPP + Mg++ could partly reconstitute the enzyme activity. In contrast to the relative homogeneity in the reconstitution profiles of normal strains, the five classical and one intermittent MSUD strains showed heterogeneity in cofactor requirements. Complementation analysis using heterokaryons prepared from fibroblasts of four patients with classical MSUD and one patient with intermittent MSUD showed, in contrast to experiments with normal controls, a partial amelioration of the defect in two combinations; it is suggested that the defect in these strains is located at different functional subunits of the multienzyme complex.

Caproates↗
PubMed1977

The acetylator polymorphism in four populations of Afghanistan.

Studies of the acetylator polymorphism in Pushtoons, Tajiks, Hazaras and Usbeks living in Afghanistan revealed a lower frequency of the allele ACS in the last two populations. The results were compared with those of other populations. The importance of this polymorphism for therapy and a possible relation to the use of alkaloids in form of spices and drugs is discussed.

Acetyltransferases↗
PubMed1977

Heterogeneity and partial purification of human erythrocyte membrane acetylcholinesterase.

Triton X-100 solubilised human erythrocyte acetylcholinesterase (E0), when subjected to chromatography on Sephadex G-200, showed one enzyme activity peak (Eg) and a number of protein peaks (Pg). The same sample could be separated into several subfractions of enzyme activity on DEAE-cellulose by gradient elution with increasing sodium chloride. When the gel filtered enzyme peak (Eg) alone was rechromatographed on an ion-exchange column under identical conditions, it showed only one enzyme peak. But when Eg in combination with protein peaks (Pg) without enzyme activity is rechromatographed as a physical mixture on a DEAE-cellulose column under the same conditions, the preparation could again be resolved into at least two fractions with enzyme activity. 2) Disc electrophoresis of fractions from DEAE-cellulose chromatography separated multiple bands which differ significantly from those produced by electrophoresis of E0. This suggests that E0 had undergone some form of conformational modification during the ion-exchange chromatography. However, this modification of E0 was avoided, if it was subjected to Sephadex G-200 chromatography before the DEAE-cellulose step. 3) A three-step technique (fractionation on Sephadex G-200, DEAE-cellulose chromatography and electrofocusing) has been performed for the purification of erythrocyte acetylcholinesterase. An enzyme preparation of high purity with a specific activity of 81 U/mg of protein was obtained.

Acetylcholinesterase↗
PubMed1977

A simplified micromethod for the determination of the acetylator phenotype.

A simplified and rapid method is described for phenotyping of sulfamethazine acetylation. Two hours after a test dose of sulfamethazine, free and total sulfamethazine are estimated in blood drawn either by capillary or venipuncture. The present method offers sharp segregation between slow and rapid acetylators, requires micro blood volumes drawn from finger- or ear pucture, and is more convenient for population genetics survey as well as for clinical investigations.

Acetylation↗
PubMed1977

Serum protein polymorphisms in four populations of Afghanistan.

Gene frequencies of the serum proteins third component of complement (C3) transferrin (Tf), haptoglobin (Hp), group specific component (Gc), serum cholinesterase (E1), alpha1-antitrypsin (Pi), beta2-glycoprotein I (Bg), and ceruloplasmin (Cp) in the Tajiks, Pushtoons, Hazaras, and Usbeks in Afghanistan were reported. Rare variants were observed in the C3, Tf, and Pi systems.

Afghanistan↗
PubMed1977

[Quantitative digital dermatoglyphic parameters--their distribution in families].

112 mother-child-father tercettes have been examined for several quantitative dermatoglyphic parameters (total ridge count--TRC--, radial and ulnar differrences, index of pattern type [KEITER]). The distribution of pattern among children has been compared to those of their parents. In the majority of cases within the empirical distribution of the children extreme values outside of the variation range of the parents were observed. This is in contrast to the formal genetic model of additive polygeny (HOLT). These findings have been interpreted as manifestation of TRC-heterogeneity suggesting a modifying action of radial and ulnar ridge differences. The parent-child correlation for the radio-ulnar differences and the index of pattern type were lower than that for the TRC. The interpretation of unexpected differences in quantitative dermatoglyphic parameters of children in relation to the variation of their parents has to be discussed very carefully. Due to the small number of material a correlation between the isolated position of the children in TRC to mother-child-differences in serological markers could not be excluded in this study.

Adult↗
PubMed1977

[Variability and formal genetics of labial grooves].

320 adults and 100 family tercettes from the area of Hamburg were studied concerning the distribution and frequency of different lip patterns as well as special structures of lip ridges (whorls). Dividing the material in three phenotypic classes the phenotype corresponding to less wrinkle intensity was found to be most frequent. Simple branching ridges and complicated phenotypes were present in almost similar frequency. The complicated patterns as well as structural details were more frequent among males. In the family tercettes, the offsprings from parents with less branching patterns showed a wide range of variation. Dominant genetic factors could be suggested for the manifestation of paramedial double whorls on the lower lip. Embryological considerations as well as studies by Hirth et al. (1977) agree to these interpretations.

Adult↗
PubMed1976

Human-serum cholinesterase subunits and number of active sites of the major component.

The major C4 component of human serum cholinesterase was highly purified by a two-step procedure involving chromatography on DEAE-cellulose and preparative disc electrophoresis. The final product was about 8 000-fold purified with a yield of 64%. The subunit structure was determined by 8M urea polyacrylamide disc electrophoresis and by the sedimentation equilibrium centrifugation method in 5M guanidine hydrochloride. It was found that the C4 enzyme has a tetrameric structure. The subunits are equal in size and charge and a molecular weight comparable to that of the C1 enzyme from native serum. The major C4 enzyme and the minor C1 enzyme were subjected to an 'active enzyme centrifugation'. It was found that the C4 enzyme was a tetramer and the C1 enzyme was a monomer in the presence of substrate. The number of diisopropylphosphofluoridate-binding sites was measured from the molar ratio of bound diisopropylphosphate to protein. A value close to two binding sites was found for the C4 enzyme.

Amino Acids↗
PubMed1976

Persistence of high intestinal lactase activity (lactose tolerance) in Afghanistan.

Two hundred and seventy apparently healthy adult subjects from Afghanistan, mainly from the central and eastern parts of the country, were subjected to a lactose tolerance test. The change of blood glucose from the fasting concentration at 20 min after the administration of lactose showed a bimodal distribution. Forty-seven subjects had a rise of blood glucose concentration of more than 1.1 mmol/l and were classified as persistence of high intestinal lactase activity (PHILA), a term which lays emphasis on the fact that high lactase activity in the adult is an unusual state whose prevalence in some populations requires explanation. In the Afghan sample there were no significant differences of the frequency of PHILA in different ethnic groups.

Adult↗
PubMed1976

Genetic polymorphism of C3 and serum levels of immunoglobulins, C3, C4 components of complement and C3-proactivator in four different populations of Afghanistan.

The C3 phenotype distribution was studied in 4 different populations from Afghanistan. The gene frequencies of C3S allele were: Tajiks (0,8547), Pushtoons (0.8812), Hazaras (0.9036) and Osbeks (0.8530). These values were significantly higher than in European populations studied previously. No significant differences were found between the mean serum levels of C3, C4 and C3-proactivator among 4 population groups. A higher concentration of IgG, IgA and IgM was observed in Afghanistan sera than reported for Europeans.

Afghanistan↗
PubMed1976

A note on suxamethonium sensitivity and serum cholinesterase variants.

Sera from 21 cases of prolonged apnoea which showed normal phenotype (UU) on the basis of dibucaine and fluoride inhibition were re-examined by replacing the substrate benzoylcholine with succinylcholine (suxamethonium). 9 samples had normal enzyme activity but low dibucaine number (DN = less than 20) indicating the atypical variant; 6 sera showed no detectable enzyme activity. The remaining 6 samples had enzyme activity and DN comparable with healthy controls. The occurence of new variants of serum cholinesterase sensitive only to succinylcholine is suggested.

Apnea↗