Y chromosome detection by Real Time PCR and pyrophosphorolysis-activated polymerisation using free fetal DNA isolated from maternal plasma

Objectives To validate the use of Real Time PCR, a widely used technique that can detect very low levels of Y chromosomal sequence, and to assess the use of a highly sensitive PCR technique, pyrophosphorolysis-activated polymerisation (PAP), for fetal sex determination using free fetal DNA (ffDNA). Methods The fetal sex was determined by Real Time PCR in 58 pregnancies using ffDNA isolated from maternal plasma. In parallel with the Real Time PCR experiments, the presence of Y chromosome sequence was also determined using PAP on 54 isolated ffDNA samples. Results Both techniques detected Y chromosome sequence at very low levels with 98% specificity and 100% sensitivity (Real Time n = 44, PAP n = 54). Furthermore, the PAP technique was shown to be more robust than the Real Time PCR as none of the samples tested failed to meet the acceptance criteria. Combining the two techniques for male fetal sex detection from maternal blood plasma increases the sensitivity and specificity to 100% in this series. Conclusions This study shows that both Real Time PCR and PAP can be used for Y chromosome detection on ffDNA. Furthermore, by using PAP in combination with Real Time PCR more reliable early prenatal sexing can be performed using ffDNA. Copyright © 2007 John Wiley & Sons, Ltd.     

Prenatally detected trisomy 7 mosaicism in a dysmorphic child

Trisomy 7 mosaicism was detected prenatally in cultured amniocytes but not in fetal lymphocytes. The child that was born had pigmentary changes of the skin and facial asymmetry suggestive of a chromosomal mosaicism. Skin fibroblasts were studied and trisomy 7 mosaicism was confirmed. At 3 years of age the boy had developed mentally within normal limits. However, dysmorphic findings include sparse hair, short leftpalpebral fissure, ptosis of the left eyelid, strabismus, enamel dysplasia, low-set and posteriorly rotated ears and undescended testes. These findings share some common features with previously reported cases of trisomy 7 mosaicism. Copyright © 2002 John Wiley & Sons, Ltd.     

New data on reproductive biology and growth of Octopus vulgaris

The problems of reproduction of Octopus vulgaris and the seasonal distribution in the sea of planktonic larvae, benthonic juveniles and adults are discussed. The influence of environmental factors on growth is shown by experimental studies in the laboratory, and the difficulties of interpreting field data are emphazised.Dedicated to Professor Dr. Adolf Portmann on his 75th birthday, 27 May, 1972Laboratoire associé au C.N.R.S.     

The metal mining industry in Eastern Europe

The mining industry has been one of the backbones of the socialist countries of Eastern Europe, not only in economic, but also in political, terms. Three years after the beginning of economic reforms, the mining industry in all the Eastern European countries is facing dramatic changes. Most mines are mining ores below acceptable cut-off grades, and there is no hope of finding new, richer deposits. Downstream metallurgical industries will need to replace their former suppliers. In addition, the social contract that had been maintained under the socialist governments is about to be undone and a new form of internal organization must be found. The success of the economic reforms in Eastern Europe depends upon the capacity to develop new industrial relations: the large mining combinates will have to be transformed into competitive capitalist enterprises and the role of the state must be redefined. Prospects for this transformation vary greatly, from metal to metal and from country to country. Finally, restructuring in Eastern Europe will also affect European and world markets, both on the supply and demand sides. The integration of the Eastern European mining industries into the international mining community should be the medium-term goal of all the participants .