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Sex tests based onamelogeninare part of various PCR multiplex reaction kits widely used for human gender identification and have important applications in forensic casework, prenatal diagnosis, DNA databasing and blood sample storage. The two most common sex tests based onamelogeninare represented by primer sets that delimit a 6-bp deletion on the X chromosome to produce X/Y fragments of 106/112 or 212/218 bp, respectively. Few cases ofAMELYdeletion, usually considered as polymorphisms, have been reported so far and a detailed characterization of the molecular alteration is still lacking. In this study, we describe a large interstitial deletion of the Y short arm encompassing theAMELYlocus in two unrelated individuals. The first case was identified in an oligozoospermic, otherwise phenotypically normal, 32-year-old man during the screening for Y microdeletions performed on a sample of infertile males. The second one was found among amniotic liquid samples tested by quantitative fluorescence-polymerase chain reaction and cytogenetic analysis for prenatal diagnosis. The extent of the deletion, spanning approximately 2.5 Mb, was better characterised by pulsed-field gel electrophoresis, followed by fluorescence in situ hybridization and STS marker analysis. [ABSTRACT FROM AUTHOR]

The procedure used to obtain mitochondrial ribosomes from rat liver highly active in catalyzing a poly(U)-dependent polyphenylalanine synthesis is described. Two kinds of particles with sedimentation coefficients of 80-S and 55-S, present in the mitochondrial lysate, are able to catalyze protein synthesis in vitro. Sensitivity to specific inhibitors of protein synthesis demonstrates that the activity of 55-S particles is only of mitochondrial origin whereas that of 80.S particles is partly due to mitochon- drial ribosomes and partly to contaminating cytoplasmic ribosomes. Characterization of the two kinds of mitochondrial particles has been carried out by studying their sedimentation pattern in different experimental conditions and by analyzing the RNA extracted by polyacrylamide gel electrophoresis. 16-S and 12-S RNA seem to be specific mitochondrial ribosomal species. The results suggest that the 55-S particle represents the basic unit for protein synthesis in rat liver mitochondria. Particles with higher sedimentation value probably represent aggregates of mitochondrial monosomes. [ABSTRACT FROM AUTHOR]