Prenatal diagnosis of 21-hydroxylase deficiency by rflp analysis of the 21-hydroxylase,complement C4, and HLA class II genes

In 19 pregnancies at risk for 21-hydroxylase deficiency (21OHD) in 18 families with at lea one affected child, prenatal diagnosis was performed by RFLP analysis using the enzymi Taq I and EcoRI and the DNA probes specific for the 21 OH genes, the closely linke complement C4 genes and the highly polymorphic HLA class II genes DRB, DQB, and DPI For fetal DNA analysis either chorionic villi or cultivated amniotic cells were used. In all 1 cases, a clear prenatal diagnosis was possible either with the 21OH probe alone or in mo cases, by combining the results of the different closely linked loci.     

Zelluläre Wirkungen der ultravioletten Komponente des Sonnenlichts

The discussion on the possible increase of solar UV on earth due to the destruction of the stratospheric ozone has led to a renewed interest in the action of ultraviolet radiation on biological systems. The paper deals with changes at the cellular level stressing particularly molecular alterations in deoxyribonucleic acid, the carrier of genetic information. The most important repair processes by which lesions are removed or bypassed are described. It is also discussed whether the effectivity of a complex spectrum can be predicted on the basis of measurements with monochromatic radiation. Furthermore, possible consequences on human health are outlined which may be derived from cellular studies.     

Mating System and Sexual Selection in the Scorpionfly Panorpa vulgaris (Mecoptera: Panorpidae)

Panorpa vulgaris   has become a model insect for testing theories of sexual selection. This contribution summarizes that which has been learned in recent years and presents new data that clearly show that the mating system of P. vulgaris is not simply a resource-defense polygyny, as has previously been thought. In P. vulgaris neither the pattern in food exploitation nor the ratio of variance in the lifetime reproductive success of the two sexes is in accordance with that expected in resource defense polygynous mating systems. Lifetime mating duration is the most important proximate determinant of male fitness. Males employing alternative mating tactics obtain copulations of varying duration in relation to the following sequence: saliva secretion  1  food offering  1  no gift. The number of salivary masses which males provide to females during their lifetime is significantly correlated with the lifetime condition index. The condition index depends on the fighting prowess of males and their ability to find food items. Thus saliva secretion of Panorpa is considered a Zahavian handicap, which can serve as an honest quality indicator used by mating females. Our results confirm four main predictions of the indicator model of the theory of sexual selection: (a) the indicator signals high ecological quality of its bearer, (b) the indicator value increases with phenotypic quality, (c) the indicator value is positively correlated with the genetic quality affecting offspring fitness in a natural selection context, and (d) the quality indicator is more costly for low- than for high-quality individuals. The evolutionary consequences of the mating pattern and the sperm competition mechanism in P. vulgaris are discussed in the context the way in which sexual selection creates and maintains sperm mixing and the evolution of a promiscuous mating system.     

Prenatal diagnosis of chondroectodermal dysplasia with fetoscopy

Chondroectodermal dysplasia (Ellis-van Creveld syndrome) has previously been diagnosed prenatally only once, using fetoscopy. We report on two consecutive pregnancies in a woman at risk of having a child with the syndrome during which fetoscopic visualization was performed. Ellis-van Creveld syndrome was diagnosed prenatally in one instance, while it could be excluded in the other one. Non-invasive prenatal diagnosis of the syndrome is discussed.     

The effect of oxygen tension on colony formation and cell proliferation of amniotic fluid cellsin vitro

The effects of reduced oxygen concentrations in the gas phase over the culture medium on colony formation and cell proliferation were investigated in high and low cell density primary and secondary cultures of amniotic fluid cells. Using two standard culture methods (25 cm² plastic flasks and Leighton type tubes) a significantly reduced culture time was observed at high cell density for mass cultures by incubation within a low oxygen tension gas phase (2.5 per cent to 7.5 per cent O₂) instead of conventional air (18 per cent O₂). At low cell density colony formation was significantly enhanced in cultures grown at reduced oxygen tension. Using gas permeable membranes as support, lowering the oxygen tension from 7.5 per cent to 2.5 per cent yielded an increase in plating efficiency of cells from approximately 5 per cent to 25 per cent, whereas plating efficiency was less than 2 per cent for cells grown at ambient 18 per cent O₂. It is suggested that low oxygen tension in the gas phase is an effective means of enhancing clonal growth in amniotic fluid cell cultures, thereby reducing both culture time and risk of culture failure.     

Effect of soil solids concentration in batch tests on the partition coefficients of organic pollutants in landfill liner-soil materials

 The effect of the soil solids concentration in batch tests on the measured values of the partition coefficient (K _p) of organic pollutants in landfill liner-soil material was investigated. Since this study was based on the results of batch and column tests conducted independently, there were limitations to the conclusions derived. The organic compounds tested were benzene, methylene chloride, toluene, trichloroethylene, and p-xylene. The results of this study showed that as soil solids concentrations increased, the measured K _p values of these organic compounds strongly decreased. The observed values of K _p stabilized when the soil solids concentration was above a certain value. Typical K _p values obtained from batch tests conducted under high soil solids concentrations were close to those obtained from column tests. It was concluded that the K _p values of organic compounds measured under low soil solids concentrations, i.e., less than 100 g/l, may not correctly simulate the field situation. Consequently, the values of K _p obtained with low soil solids concentrations can result in an overestimation of the retardation factor of the landfill liner material. Received: March 14, 2002 / Accepted: August 25, 2002