Successful DNA-based prenatal exclusion of juvenile neuronal ceroid lipofuscinosis

A family with two siblings, 10 and 8 years old, both with clinical and ultrastructural evidence of juvenile neuronal ceroid lipofuscinosis is described. The family was found to be informative for the restriction fragment length polymorphisms (RFLPs) detected by the probes pCJ52–95Ml (locus D16S148) and pCJ52-94Tl (locus D16S159) flanking the juvenile neuronal ceroid lipofuscinosis locus, CLN3. The parents were both heterozygous using these probes, while their two children with juvenile neuronal ceroid lipofuscinosis were both homozygous. Chorionic villi analysis showed that the fetus was heterozygous and had inherited the one allele of the mother which was not found in the two siblings. This suggested that the fetus had derived one healthy allele from the mother, the risk for a double crossing-over being less than 1 per cent. Electron microscopy showed no fingerprint inclusions in chorionic villi. The child was investigated at 6 months of age and found to be healthy, as new fingerprint inclusions were found at electron microscopy and no vacuolated lymphocytes were found in the blood smear. Due to the risk of heterogeneity, both DNA-based analysis and electron microscopy on chorionic villi are recommended for prenatal examination for juvenile neuronal ceroid lipofuscinosis.     

Prenatal investigation of a 45,X/46,X,r(?) karyotype in amniocytes using fluorescence in situ hybridization with an X-centromeric probe

The karyotype of cultured amniotic fluid cells obtained on the indication of advanced maternal age was shown to be a mosaic 45,X/46,X,r(?). The small size and banding pattern made it difficult to determine whether the ring was derived from and X or a Y chromosome, or even from an autosome. By using an X-centromeric probe and fluorescence in situ hybridization (FISH), we demonstrated the ring to have an X centromere. Thus, a more complete genetic counselling was possible. This confirms the usefulness of FISH in identifying and characterizing this and other chromosome rearrangements in prenatal diagnosis.     

Optical Imaging of Odor-Evoked Glomerular Activity Patterns in the Antennal Lobes of the Ant Camponotus rufipes

 Ants have a well developed olfactory sense, which they need both for the perception of environmental chemicals, and for a highly sophisticated intraspecific communication system based on pheromones. The question arises therefore as to how different odors are coded in the antennal lobe, the first central neuropil to process olfactory information. We measured odor-evoked activity patterns using in vivo neuropil calcium recording in the antennal lobe of the ant Camponotus rufipes. We found that (a) odors elicit focal activity spots (diameter ca. 20 μm) which most probably represent the olfactory glomeruli; (b) different odors are coded in odor specific patterns of such activated spots, and a particular spot can participate in the pattern for different odors; (c) calcium increased in the activated spots within the 2-s stimulation period and slowly declined thereafter. Received: 10 March 1999 / Accepted in revised form: 5 July 1999     

Online-Patentrecherchen — schnelle Antworten auf kritische Fragen

Online searching in publically available patent files opens up interesting possibilities to provide a rapid response to critical questions. A computerized analysis of all patents of leading German pharmaceutical companies over the last decade in important indication areas is described. Supported by subsequent manual processing of individual patents it is shown that duplicate experiments on animals practically never occur.