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.     

Mangroves as nursery sites: comparisons of the abundance and species composition of fish and crustaceans in mangroves and other nearshore habitats in tropical Australia

Daytime sampling of mangrove and seagrass (Halophila/Halodule community) habitats every 7 wk at Alligator Creek, Queensland, Australia, over a period of 13 mo (February 1985–February 1986) using two types of seine net, revealed distinct mangrove and seagrass fish and crustacean faunas. Total abundance of fish and relative abundance of small and large fish also varied between habitats and seasonally. Post-larval, juvenile and small adult fish captured with a small seine-net (3 mm mesh) were significantly more abundant (4 to 10 times) in the mangrove habitat throughout the 13 mo of sampling. Mangrove fish abundance showed significant seasonality, greatest catches being recorded in the warm, wet-season months of the year. Relative abundances of larger fish (captured in a seine net with 18 mm mesh) in the two habitats varied throughout the year, but did not show a seasonal pattern. At the same site, small crustaceans were significantly more abundant in the mangroves in all but one dryseason sample. Similar comparisons for three riverine sites, sampled less frequently, in the dry and wet seasons of 1985 and 1986, respectively, showed that in general mangrove habitats had significantly more fish per sample, although the relative abundance of fish in mangroves and other habitats changed with season. Crustacean catches showed a similar pattern, except that densities among sites changed with season. Fish and crustacean abundance in mangroves varied among sites, indicating that estuaries differ in their nursery-ground value. The juveniles of two commercially important penaeid prawn species (Penaeus merguiensis and Metapenaeus ensis) were amongst the top three species of crustaceans captured in the study, and both were significantly more abundant in the mangrove habitat. By contrast, mangroves could not be considered an important nursery for juveniles of commercially important fish species in northern Australia. However, based on comparisons of fish catches in other regions, the results of the present study indicate the importance of mangroves as nursery sites for commercially exploited fish stocks elsewhere in South-East Asia. Contribution No. 378 from the Australian Institute of Marine Science     

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.     

Exoautometabolic regulation of transgenes in microorganisms

Data on the existence of a specific system regulating the growth, size, and structure of enterobacterial populations are first summarized in terms of the chemical ecology concept formulated by S.S. Shvarts. The role of this system in transgene functioning is described using the example of the lux operon integrated into Escherichia coli. A relatively simple test for estimating such interactions is proposed.Translated from Ekologiya, No. 2, 2005, pp. 91–96.Original Russian Text Copyright © 2005 by Pshenichnov, Maslennikova, Nikitina.