Ornithine transcarbamylase (OTC) deficiency in a female patient with a de novo deletion of the paternal X chromosome

Summary A girl with ornithine transcarbamylase (OTC) deficiency was investigated for molecular and cytogenetic abnormalities that might explain this phenotype. Analysis with polymorphic DNA markers indicated that the patient did not inherit paternal alleles of the OTC locus, but that she did inherit the proximal locus DXS7 and the long arm of chromosome X. High-resolution cytogenetic analysis of the patient indicated a deletion of Xp11.4-p21, whereas both parents had normal karytoypes. Since the mother might be heterozygous according to biochemical tests, a second mutation within the maternal OTC gene cannot be excluded.     

Dynorphin-Related Opioid Peptides in the Neurointermediate Pituitary of Rats Are Not α-N-Acetylated

Immunoreactive dynorphin in the neurointermediate pituitary of rats was found to consist of four different molecular weight forms. The three larger molecular weight forms, with apparent molecular weights of 4800, 3200, and 1700, constituted more than 80% of the total dynorphin immunoreactivity, and each liberated leucine-enkephalin but not alpha-N-acetyl-leucine-enkephalin upon enzymatic treatment with trypsin followed by carboxypeptidase B. Only a minor portion of the smallest dynorphin-related molecular weight form, dynorphin-(1-8), released alpha-N-acetyl-leucine-enkephalin upon enzymatic cleavage. This suggests that the vast majority of dynorphin-related peptides in the rat neurointermediate pituitary is not alpha-N-acetylated. The exceptionally high opiate-like activity of the molecular weight 1700 dynorphin suggests that this dynorphin-related opioid peptide may constitute the major part of opioid activity in the neurointermediate pituitary of rats.     

Frequency distribution of DNA in blood and bone marrow cells of children with acute non-lymphatic leukemia using impulse cytophotometry

1. As compared with the peripheral blood lymphocytes of healthy subjects the cells in the mononuclear fraction of peripheral blood and in the bone marrow of children with ANLL show a significant higher S- and G2 + M-phase. 2. A high proliferative activity correlate with a bad prognosis or with reaching no haematological remission. 3. Frequently, aneuploid cell populations will occur in the morphological subtypes M 4 and M 5.     

Dimethylsulfoxide as carrier in enzyme cytochemistry

Summary Addition of dimethylsulfoxide (DMSO) to the incubation medium of succinate dehydrogenase in a concentration of 10% enhances the staining reaction in the hyphae of the fungus Cercosporella herpotrichoides after an incubation period of 15 min. Controls without DMSO remain unstained. DMSO causes a rapid penetration of the components of the medium through the mucilage that covers the hyphae.