Identification of a deletion in the LDL receptor gene A Finnish type of mutation

A cDNA probe for the low density lipoprotein (LDL) receptor gene was used to screen DNA samples from 52 unrelated Finnish patients with the heterozygous form of familial hypercholesterolemia (FH) and 51 healthy controls. Southern blot analysis using the restriction enzyme PvuII revealed an abnormal 11 kb (kilo base-pair) restriction fragment in 16 (31%) of the patients but none of the controls. A more detailed restriction enzyme analysis of the DNA from patients revealed a mutation which apparently is due to an 8 kb deletion extending from intron 15 to exon 18 of the LDL receptor gene. Co-segregation of FH with the mutated gene was demonstrated in three families. These data are consistent with a ‘founder gene effect’ and support the assumption that recombinant DNA methods may have great impact on the diagnostics of FH in genetically homogeneous populations.     

Contribution to the ecology ofMarsilea quadrifolia L.

Data are presented on the aboveground and underground biomass of the speciesMarsilea quadrifolia and on the water regime and soil conditions in a habitat of this species in Central Europe (Czechoslovakia).     

Production of protoplasts from the fungi Curvularia inaequalis and Trichoderma reesei

Summary Protoplast formation in Curvularia inaequalis was achieved using non-commercial and commercial snail gut enzymes or Trichoderma harzianum enzymes. The cells were grown for enzyme treatment on cellophane sheets or in liquid cultures for varying periods of time. The production of T. harzianum enzymes is discussed. The highest protoplast yields were 2.6x10⁷ protoplasts/ml enzyme solution. Protoplasts were shown to have zero to four nuclei. Protoplast regeneration was succesfully carried out in semisolid agar.     

Cell removal from fermentation broth by flocculation + sedimentation

Summary Cell separation by flocculation+sedimentation ofStreptoccocus equisimilis cultivation for hyaluronate lyase recovery, was investigated as a function of the pH of the fermentation broth, using three different cationic flocculants. The polyelectrolyte Superfloc N-100 appears to be the best of the three flocculants tested; after treatmen of pH 6.0 and 120 min free sedimentation, the cells are sedimented at 20% of the initial volume and 80% of the volume remained as a clear supernatant without loss of enzyme activity.     

Synthesis of methyl α-d-glucopyranosyl-(1–2)-α-d-galactopyranosyl-(1-3)-α-d-glucopyranoside and an acyclic analogue thereof for probing the carbohydrate-binding specificity of bacteriophage ϕX 174

The title trisaccharide was synthesized using methyl 1-thioglycoside building blocks. An acyclic analogue, methyl 3-O-(α-D-glycopyranosyl-oxyethyl)-α-D-glucopyranoside, which has an ethylene bridge in place of the galactosyl residue, was also synthesized.     

Accumulation of pyrophosphate in Escherichia coli. Relationship to growth and nucleotide synthesis

Pyrophosphate (PPi) content of Escherichia coli is increased manyfold when the growth of the cells is limited by inhibition of the synthesis of nucleotides. The accumulated PPi is immediately degraded when inhibition is released and growth allowed to resume. Other tested nutritional deficiencies (starvation of carbon source, sulfate or an amino acid) fail to induce PPi accumulation.