Biomedical subjects
Publications and source records attributed to H G Scheil.
In order to determine the zygosity relative probabilities in favour of dizygotic twin pairs for 30 hemogenetic systems are given. The basic formulas for the probability calculations are described.
Migrations in prehistoric and protohistoric man are responsible for the genetic similarity observable in recent populations. As a consequence of these early migrations, small groups were founded and the resultant genetic drift and isolation were often involved in the differentiation of some populations. The Walsers of the Grisons (Switzerland) present a good example of these inter-related population-genetic phenomena: migration was the major determinant of the relatedness of the gene pool in all Walser populations. This can be proven by allele frequencies, and most convincingly by electrophoretic variants which are only shared by closely related Walser groups. This statement demonstrates clearly the congruence of the genetics and well-documented population history of the Walsers. Incidentally, blood genetic and demographic data support the hypothesis that a genetical cline exists in the valley of Safien from south to north. This is in accordance with the historical data describing the peopling of the valley by Rheinwald Walsers in the 14th to the 16th century.
The hemoglobin of the Giant Otter (Pteronura brasiliensis, Carnivora) contains only one component. The complete primary structures of the alpha- and beta-chains are presented. The globin chains were separated by high-performance liquid chromatography and the sequences determined by automatic liquid- and gas-phase Edman degradation of the chains and their tryptic peptides. The alpha-chains show 18 and the beta-chains 12 exchanges compared with human alpha- and beta-chains, respectively. In the alpha-chains, two substitutions involve alpha 1/beta 1-contacts and one a heme-contact. In the beta-chains one alpha 1/beta 1-, one alpha 1/beta 2- and one heme-contact are exchanged. The alpha- and beta-chains of the Giant Otter are compared to those of the Common Otter and other Carnivora hemoglobins.
The hemoglobin of Weddell Seal (Leptonychotes weddelli, Pinnipedia) comprises two components with identical beta-chains. The alpha-chains differ in positions 15 (Gly/Asp) and 57 (Ala/Thr). We present the primary structure of the chains which have been separated by reversed-phase high-performance liquid chromatography. The sequences have been determined by automatic Edman-degradation with the film-technique or the gas-phase method, using the native chains and the tryptic peptides of the oxidized chains. Compared to the corresponding human chains we found 22 substitutions in the alpha-chains and 14 in the beta-chains. In the alpha-chains exchanges involve one heme- and three alpha 1/beta 1-contacts. In the beta-chains one heme contact, one alpha 1/beta 1- and one alpha 1/beta 2-contacts are substituted. The sequences are compared to those of other Pinnipedia and Arctoidea hemoglobins.
We report a paternity testing case in which a decisive clue was a deletion of the short arm of chromosome 13 in the child and in his putative father.
The hemoglobin of the Common Otter (Lutra lutra, Carnivora) contains only one component. The complete primary structures of the alpha- and beta-chains are presented. They were separated by high-performance liquid chromatography and the sequences determined by automatic liquid and gas-phase Edman degradation of the chains and their tryptic peptides. The alpha-chains show 18 and the beta-chains 13 substitutions compared to human alpha- and beta-chains, respectively. In the alpha-chains one heme- and two alpha 1/beta 1-contacts are exchanged. In the beta-chains the replacements involve one heme-, one alpha 1/beta 1-, and one alpha 1/beta 2-contact. The alpha- and beta-chains of the Common Otter are compared to those of other Carnivora hemoglobins. The unexpected low number of substitutions between Common Otter hemoglobin and that of Lesser Panda as well as of Harbor Seal is discussed.
24 families of probands with a high head circumference/height ratio greater than the 97th percentile were investigated for head circumference and height. It is concluded that "benign macrocephaly" represents rather the upper extreme of the normal distribution of head circumference than--as has been suggested by some authors--a discrete and autosomal dominant entity.
The polymorphisms of the enzymes ALADH, GOT2, GPT, PGM3, SAHH, and UMPK have been studied in a population of Northern Switzerland (Zürich). The results are compared with those of other European populations.
The means of cephalic measurements and body height of students from the Düsseldorf university are given and compared to previous studies.
Coeruloplasmin has been studied on 3051 individuals from Swiss populations. The C*PA frequencies of 0.0050 reported for Northern Switzerland as well as for the Upper Rhone Valley (Brig, Goms) and the Visp Valleys (Valais) are in the range of those of other European populations. In the village of Törbel and in the Lötschental (both Canton of Valais) the C*PA frequencies are somewhat lower. The individuals from the French speaking part of Valais showed only the C*PB allele. The fixation of the C*PB allele in the Walser of the Safiental (The Grisons) can be explained under the assumption of founder effect or of genetic drift. A new CP variant (C*PW) is described.
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The delta-aminolevulinate dehydrase (E.C. 4.2.1.24) gene frequencies were investigated by starch gel electrophoresis in 711 unrelated individuals from the Düsseldorf area. The following gene frequencies were found: ALADH1 0.929, ALADH2 0.071. The frequency reported for ALADH1 is only slightly higher than that for Italy.
Transferrin (Tf) subtypes were determined by isoelectric focusing and polyacrylamide gel electrophoresis on samples from 380 unrelated individuals. The following gene frequencies were observed: TfC1 0.7816, TfC2 0.1355, TfC3 0.0711, and TfB 0.0118.
Amy2 phenotypes were determined by agarose gel electrophoresis on samples from 590 unrelated individuals. The frequencies of the allelic genes were found to be Amy12 0.9525, and Amy22 0.0475.
Gc-subtypes were determined by isoelectric focusing and immunofixation on samples from 1157 unrelated individuals. The frequency of the three genes was found to be Gc1S 0.5476, Gc1F 0.1561, Gc2 0.2963. A rare allele, GcVI, was observed.
Pregnant rabbits were injected ip with 5 mg/kg 6-ANA at day 10, 11, 12 or 12.5 respectively of gestation. Embryos removed at day 13 of gestation had reduced DNA and RNA concentrations. The differences (DNA: 14 percent; RNA: 22.4 percent) were significant in the group treated on the twelfth day. Some possible mechanisms are discussed.
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