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.     

Small queens in the ant Ectatomma tuberculatum: a new case of social parasitism

Social parasites exploit the worker force of colonies of other social insects to rear their own young. Social parasitism occurs in several Hymenoptera and is particularly common in several tribes of the ant subfamilies Myrmicinae and Formicinae. Here, we document the occurrence of miniaturized queens (microgynes) in colonies of Ectatomma tuberculatum, an ant belonging to the subfamily Ectatomminae. Behavioral observations and genetic analyses show that microgynes concentrate their reproductive efforts almost exclusively on the production of sexual offspring (microgynes and males), whereas the regular, large queens (macrogynes) produce workers in addition to sexuals. According to mitochondrial and nuclear markers, gene flow between microgynes and macrogynes is extremely limited. Whereas the co-occurrence of microgynes and macrogynes in the related species Ectatomma ruidum constitutes an intraspecific polymorphism associated with alternative dispersal tactics, microgynes found in colonies of E. tuberculatum appear to be a distinct species and to represent the first case of social parasitism in the poneromorph subfamilies of ants.     

The State of the Mammal Community of Boreal Forest Ecosystems in the Vicinity of a Nickel-Smelting Plant

The effect of industrial air pollution on natural small mammal populations has been studied in the northern taiga subzone of the boreal forest zone. The results of long-term monitoring have been used to demonstrate the possibility of predicting changes in the main population and community characteristics of the animal species studied as dependent on the degree of anthropogenic impact.