Resolution of DNA linkage discrepancies through analysis of a VNTR locus in a family study of cystic fibrosis

First-trimester prenatal diagnosis of a fetus at 25 per cent risk for cystic fibrosis (CF) was performed by indirect linkage analysis of polymorphic markers using Southern blotting and polymerase chain reaction (PCR) amplification. The results revealed discrepancies in the allelic patterns between the father and the affected child, thereby complicating the prediction of fetal outcome. Analysis of a highly polymorphic VNTR locus within the human retinoblas-toma (RB) gene on chromosome 13 showed that the affected child and the fetus did not have the same biological father, and therefore the affected child could not be used to determine linkage of markers in the father of the fetus. The analysis of VNTR loci can be an effective method of resolving conflicting data during prenatal diagnosis of monogenic diseases.     

Parameterization of Albedo over Heterogeneous Surfaces in Coupled Land-Atmosphere Schemes for Environmental Modeling. Part I: Theoretical Background

In grid-based environmental models, the underlying surface consists of patches of solid and liquid parts and different plant communities, creating a very heterogeneous picture in the grid cell. In these cases, numerical modelers usually use a simple arithmetic average to determine the grid-cell albedo, a key variable in the parameterization of the land-surface radiative transfer over the grid cell. The object of this paper is to consider the assumptions for aggregating the albedo over a very heterogeneous surface where various surfaces occur at different heights, and, then propose a method for deriving a general expression for it. The suggested expression for the albedo is compared with the conventional approach, for the two-patches grid-cell with a simple geometrical distribution and different heights of its components. A numerical test is performed to compare the two approaches by numerical simulation of the evolution of the surface temperature over the particular grid-cell. Specifically, a one-dimensional land-surface model was applied to an isolated rocky grid-cell with a hole in the center; the model was forced with meteorological observations taken on July 17, 1999 in Philadelphia, PA.     

Pilot study for the neonatal screening of fragile X syndrome

An Erratum has been published for this article in Prenatal Diagnosis 23 (9), 2003, 771. Fragile X syndrome (SFX) is the commonest form of inherited mental retardation. Due to the highly variable phenotype clinical diagnosis is complicated. In nearly all cases, the disorder is caused by expansion of a CGG-repeat in the 5′-untranslated region of the FMR1 (fragile X mental retardation-1) gene. We have evaluated the feasibility, efficiency and costs of two methodologies in order to develop a simple test to screen large populations: PCR and fragile X mental retardation-1 protein (FMRP) immunodetection. We studied 100 newborn males using PCR and immunodetection (26.91 Euro). All but one amplified the CGG repeat of the FMR1 gene within the normal size range. The sample that failed to amplify showed only 28% of FMRP expression by immunodetection study; both results indicated an affected male. A further 100 males were studied only by polymerase chain reaction (PCR) (7.8 Euro); all of them amplified within the normal size range. Both methodologies, PCR and immunodetection, are feasible for screening large populations, PCR being the most suitable, economical and less time-consuming. However, it is advisable to keep slides for immunodetection when PCR fails or the external control shows no amplification. Early detection of SFX-affected individuals would represent a great benefit for their maximum social integration, due to appropriate treatment and early stimulation and would permit a cascade screening in their pedigree. Copyright © 2002 John Wiley & Sons, Ltd.     

The role of interactions between individual animals in the response to heat stress in the freshwater crustacean <Emphasis Type="Italic">Daphnia magna</Emphasis>

The thermal resistance of Daphnia magna Straus is a trait depending on the interaction between individuals. The group effect is expressed in D. magna as both a decrease in thermal resistance and a marked individual differentiation with respect to thermal resistance. Two types of interactions between individual D. magna have been found: (1) the release of an unidentified factor decreasing thermal resistance (without noticeably changing the phenotypic variability of this trait) into the medium and (2) a decrease in the thermal resistance of individuals poorly adapted to heat stress, with the thermal resistance of well-adapted individuals (determined by the dependence of thermal resistance on interactions between individuals) remaining the same or even slightly increasing.Translated from Ekologiya, No. 2, 2005, pp. 126–131.Original Russian Text Copyright © 2005 by Kalinnikova, Krasnoperova, T. Gainutdinov, Sadykova, M. Gainutdinov.