Sublittoral epifaunal communities at Signy Island,Antarctica. I. The ice-foot zone

Photographs were taken every 0.5 m along three transects of 5.5 m length on shallow rock faces at Signy Island, Antarctica, during the austral summer of 1991/1992. The percentage cover of substratum ranged from 0 to 100% and the colonising communities included representatives of ten phyla. The zone from mean low-water neap level to 1.5 m depth was mostly devoid of organisms as a result of the seasonal formation of the encrusting ice foot. Coralline and macroalgae dominated from 2 to 3 m, and animal groups from 3.5 to 5.5 m. Bryozoans, and to a lesser extent sponges, were the most abundant animal phyla. Within the bryozoans a succession of colonisation of different species was observed, the most abundant two of which occupied >80% of substratum in places. Substratum type seemed to be the main factor influencing community development in the shallow sublittoral at Signy Island, although ice impact prevents community development in the top 1.5 m and limits it over the rest of the transect down to 5.5 m. Depth and profile of substratum also influenced communities within this depth range (particularly taxonomic composition).     

Preimplantation genetic diagnosis of the fragile X syndrome by use of linked polymorphic markers

Fragile X syndrome is the most common cause of familial mental retardation. The most common mutation is expansion of a triplet (CGG)_n repeat in the 5′ untranslated region of the FMR1 gene on Xq27.3. The expansion is refractory to PCR due to preferential amplification of the smaller allele in heterozygous cells and the high GC content of the repeat and surrounding sequences. Direct detection of the normal parental alleles in preimplantation embryos has been used for preimplantation genetic diagnosis (PGD) of this disorder. However, this approach is only suitable for approximately 63% of couples due to the heterozygosity of the repeat in the normal population. As an alternative we investigated the use of polymorphic markers flanking the mutation to track the normal and premutation carrying maternal chromosomes in preimplantation embryos. Using a panel of 11 polymorphisms, six (CA)_n repeats and five single nucleotide polymorphisms, diagnosis was developed for 90% of referred couples. Multiplex amplification of informative markers was tested in 300 single buccal cells from interested couples with efficiency and allele drop out (ADO) rates ranging from 69% to 96% and 6% to 18%, respectively. Use of this approach is accurate and applicable to a larger number of patients at risk of transmitting fragile X to their offspring. Copyright © 2001 John Wiley & Sons, Ltd.     

The influence of lindane and lindane metabolites on microsomal and mitochondrial ATPase in vitro

In vitro investigations of the influence of lindane and its metabolites were performed on microsomal and mitochondrial ATPases from liver, kidney and brain of rat and mouse. The microsomal Na+-K+-ATPases in rat liver were inhibited by the tested substances. An increase of activity was observed only with 2.5 X 10(-5) M gamma-HCH. Effects on the microsomal Na+-K+-ATPase from kidney and brain of rat were also indicated. The mitochondrial enzyme in rat liver was stimulated by all the compounds tested at concentrations of 10(-4) M - 10(-2) M. The effects on mitochondrial enzymes from kidney and brain varied in dependence on the tested substances. In the microsomes and mitochondria of mouse an influence on the Na+-K+-ATPases similar to the effects on the preparations from organs of rat was evident.     

Prenatal diagnosis of a 45,X male with a SRY-bearing chromosome 21

Male phenotype associated with a 45,X karyotype is an infrequent finding. We present a case diagnosed prenatally on amniocentesis performed for maternal age. The male phenotype was associated with a translocation of a distal part of Yp including the pseudoautosomal SHOX gene and SRY gene on the short arm of a chromosome 21. By DNA analysis we could show that the X chromosome was of maternal origin and that the breakpoint was in interval 3 of the Y chromosome. Mechanisms and genetic counselling are discussed based on a review of published cases of 45,X and XX males. Copyright © 2002 John Wiley & Sons, Ltd.     

Relationship between the lipid content of fish and their bioconcentration potential of 1,2,4-trichlorobenzene

A significant positive correlation between the lipid content of eight fish species and their bioconcentration factor (BCF) of 1,2,4-trichlorobenzene is demonstrated. The log BCF value on a lipid basis is in good agreement with the log n-octanol/water partition coefficient.     

Effect of solar ultra-violet radiation on the kelp Ecklonia radiata

During spring and summer, 1982–1986, experiments were carried out near Marmion Reef, Western Australia. In summer, nearly 30% of the surface solar ultraviolet radiation (280 to 400 nm) penetrates offshore waters to 5 m depth. Experimental removal of the mature Ecklonia radiata kelp canopy in summer results in tissue damage, photopigment destruction, reduced growth, and low survivorship of subcanopy kelp sporophytes. These effects do not occur with canopy removal in winter. Laboratory experiments revealed that the UV component of radiation, rather than intense photosynthetically active radiation, was responsible for the inhibition of growth and photodamage. UV radiation probably affects survival of the settlement stages of E. radiata sporophytes, thus excluding them from otherwise suitable substrata in shallow waters. UV radiation is implicated in the reduction of canopy productivity in summer.     

Restrictive dermopathy and fetal behaviour

We report three siblings from consecutive pregnancies affected with restrictive dermopathy (RD). During the second pregnancy, fetal behavioural development and growth were studied extensively using ultrasound at 1–4 week intervals. Dramatic and sudden changes occurred in fetal body movements and growth but not until the end of the second trimester of pregnancy. Prominent at that time were prolonged periods of fetal quiescence and very low heart rate variability, together with abnormally executed body movements of short duration. Retarded femoral development and jerky abrupt fetal body movements (abnormal movement quality) were already present in the early second trimester of pregnancy. Facial anomalies emerged despite the presence of fetal mouth movements. The clinical features of RD were only partly explained by present knowledge of skin development and the fetal akinesia deformation sequence hypothesis. Quantitative assessment of fetal movements proved to be a poor early marker for antenatal diagnosis of this disorder. Copyright © 2001 John Wiley & Sons, Ltd.