Use of the chemical cleavage of mismatch method for prenatal deficiency diagnosis of alpha-1-antitrypsin

The most common mutation in alpha-1-antitrypsin deficiency, conversion of a G to an A at base 9989 (PI-Z), was detected with the chemical cleavage of mismatch method, demonstrating the power of the method for prenatal diagnosis. Exon V of the gene was amplified using the polymerase chain reaction and heteroduplexes were formed to test for the presence of the mutation. The predicted C mismatch was readily detectable with hydroxylamine, and by making the probe from the chorionic villus sample it was possible to determine that the fetus was heterozygous, not homozygous, for the mutation.     

The nature of the redshift and directly observed quasar statistics

The nature of the cosmic redshift is one of the most fundamental questions in modern science. Hubble's discovery of the apparent Expansion of the Universe is derived from observations on a small number of galaxies at very low redshifts. Today, quasar redshifts have a range more than 1000 times greater than those in Hubble's sample, and represent more than 100 times as many objects. A recent comprehensive compilation of published measurements provides the basis for a study indicating that quasar observations are not in good agreement with the original predictions of the Expanding Universe theory, but are well fit by the predictions of an alternative theory having fewer adjustable parameters.     

Prenatal diagnosis of a partial 8p

The index patient is a female fetus in which prenatal diagnosis of 8p trisomy was established after amniocentesis at 16 weeks of gestation. This fetus was the unbalanced product of a maternal translocation of 5q/8p (karyotype: 46,XX,t(5;8)(q35;pl 1). Internal malformations include an anomalous lobature of the right lung, a little and high atrio-ventricular communication, and an anomaly in the number and shape of the aortic semilunar valves. The possible relationship between the phenotype and the chromosomal abnormality is briefly discussed.     

Determination of in situ metal partitioning between particulate matter and ground water

This research was supported by a grant from the National Council for Research and Development, Israel, and the KFK, Karlsruhe, Germany.