Adult-onset GM2 gangliosidosis diagnosed in a fetus

Amniocentesis and subsequent tests are reported on a fetus conceived of a rare mating type: its mother has an intermediate level of β hexosaminidase A (HEX A), characteristic of carriers of Tay-Sachs disease (TSD), while the father suffers from an adult-onset GM₂ ganglio-sidosis (AOG) with severe HEX A deficiency. Activity of HEX A in the cultured fetal cells was very low when measured by the heat-inactivation method, thus showing the typical biochemical phenotype of TSD fetuses. However, upon separation of HEX isozymes by ion exchange chromatography, residual HEX A (17 per cent of total HEX) was demonstrated. Also in contrast to TSD fetuses, this fetus' fibroblasts were able to synthesize the precursor of a chains of HEX, and ultrastructural examination of its brain revealed few atypical lamellar bodies, unlike those found in TSD fetuses of the same gestational age. It is therefore concluded that the fetus was not affected with TSD, but rather with AOG.     

Olfactory and chemical characterization of indoor air. Towards a psychophysical model for air quality

The relationship between the odor strength of total air samples and the odor strengths of the constituents was investigated in three field experiments in an office building and a new preschool. The odor strength was scaled by magnitude estimation according to a master scale principle which results in comparable values for the total and the constituent odors. Between 60 and 120 chemical components were detected by GC/FID in the indoor air samples (N = 66). Most (81%) of the detected components in an air sample were odorous, even though most of them were of the low concentrations. By a method of pattern analysis, chemical as well as odor patterns of indoor air were found to be characteristics of different buildings. From the odor patterns (POG), the “odor print” of the outdoor air associated with the buildings was also recognized in the indoor air. Thus, the “odor print” of an air sample is different from its “chemical print”. A model was found that predicts the overall odor strength of an air sample from the number of FID-detected components most frequently reported to have a strong odor.     

Genetic Diversity of Lepilemur mustelinus ruficaudatus, a Nocturnal Lemur of Madagascar

The genetic polymorphism of natural populations of Lepilemur mustelinus ruficaudatus was studied by protein electrophoresis. We sampled blood from 72 individuals from four populations separated by geographic or anthropogenic barriers from southwestern Madagascar. Six out of 22 enzyme loci showed genetic variation with a degree of polymorphism of 0.273. The expected and observed degree of genetic heterozygosity over all loci is similar to that of other primates (H_e = 0.058, H_o = 0.036). The F-statistics revealed that the four subpopulations were similar with respect to gene structure (F_ST = 0.065, p = 0.016), but the genotypic structures within subpopulations were inconsistent with random mating. For the total of the four subpopulations the proportion of heterozygous individuals was significantly smaller than expected under random mating (F_IS = 0.373, F_IT = 0.414, p < 0.01). These results correspond closely to what is expected considering the low migration ability of individuals of L. m ruficaudatus leading to small and rather isolated inbred populations.