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.     

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Geological CO2 Storage as a Climate Change Mitigation Option

Carbon dioxide (CO₂₎ capture and storage is increasingly being considered as an important climate change mitigation option. This paper explores provisions for including geological CO₂ storage in climate policy. The storage capacity of Norway's Continental Shelf is alone sufficient to store a large share of European CO₂ emissions for many decades. If CO₂ is injected into oil reservoirs there is an additional benefit in terms of enhanced oil recovery. However, there are significant technical and economic challenges, including the large investment in infrastructure required, with related economies of scale properties. Thus CO₂ capture, transportation and storage projects are likely to be more economically attractive if developed on a large scale, which could mean involving two or more nations. An additional challenge is the risk of future leakages from storage sites, where the government must take on a major responsibility. In institutional and policy terms, important challenges are the unsettled status of geological CO₂ storage as a policy measure in the Kyoto Protocol, lack of relevant reporting and verification procedures, and lack of decisions on how the option should be linked to the flexibility mechanisms under the Kyoto Protocol. In terms of competitiveness with expected prices for CO₂ permits under Kyoto Protocol trading, the relatively high costs per tonne of CO₂ stored means that geological CO₂ storage is primarily of interest where enhanced oil recovery is possible. These shortcomings and uncertainties mean that companies and governments today only have weak incentives to venture into geological CO₂ storage.     

A routine method for storing lymphocytes for repeated isolation of DNA

A protocol for easy storage and later expansion of lymphocyte populations is given. Compared with methods using transformed cell lines, the method has a number of advantages for repeated production of cells for the isolation of DNA in amounts sufficient for use in diagnostic DNA technology.