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.     

Challenges to achieving a successful transition to a low carbon economy in South Africa: examples from poor urban communities

South Africa faces several development challenges including those linked to climate change. Energy usage in South Africa, for example, is already constrained because of a range of development challenges (the dependence on cheap coal as a heating source; energy availability; access; affordability of alternative energy sources; and a range of health impacts, including air pollution). Notwithstanding calls for a transition to a low carbon economy, there have been few, recent assessments in South Africa of the costs associated with such a transition, particularly the social and economic costs for the poor who use energy in a variety of ways. In this paper we focus on trying to unravel some of the complex energy-use behaviour including understanding what drives consumers in resource-poor areas to choose and use persistently risky energy options. Analysis of qualitative data in two township areas, Doornkop and Kwaguqa, shows that township households, whether electrified or not, continue to burn coal. In both study areas, an estimated 80% of electrified households burn coal for space heating and cooking and also make use of multiple fuel sources for a range of activities. Although the major obstacles preventing people from discontinuing domestic coal combustion are poverty, the ready availability and social acceptability of coal together with other social customs cannot be underrated. This paper therefore highlights some of the persistent challenges associated with sustainable energy transitions in South Africa including implications for improved mitigation and adaptation for the energy sector in wider climate change efforts.     

Erythroid-specific antibodies enhance detection of fetal nucleated erythrocytes in maternal blood

Fetal nucleated erythrocytes (NRBC) in maternal blood are a non-invasive source of fetal DNA for prenatal genetic screening. We compared the effectiveness of three monoclonal antibodies for the separation of fetal cells from maternal blood by flow sorting. Mononuclear blood cells from 49 healthy pregnant women were incubated with antibody to CD 71, CD 36, and/or glycophorin A (GPA), employed singly or in combination with each other. These monoclonal antibodies recognize surface antigens on haematopoietic precursor cells. Successful isolation of fetal cells was defined as detection of Y chromosomal sequences in maternal blood from women carrying male fetuses, with absence of Y sequences when female fetuses were carried. Thus, gender prediction accuracy was used as a measure of fetal cell separation. Using anti-CD 71 to isolate fetal cells, gender prediction was 57 per cent correct; with anti-CD 36, it was 88 per cent correct. Anti-GPA, an erythrocyte-specific antigen, used alone or in combination with anti-CD 71 or 36, improved gender prediction to 100 per cent. We conclude that antibody to GPA improves the retrieval of fetal NRBC from maternal blood, permitting genetic analysis by the polymerase chain reaction.     

Evidence of a second gamete fusion after the first cleavage of the zygote in a 47,XX, + 18/70,XXX, + 18 mosaic. A remarkable diploid-triploid discrepancy after CVS

A 70,XXX, +18 karyotype was found by chorionic villus sampling, while the fetal fibroblast culture of the affected fetus revealed a 47,XX,+ 18 karyotype. From several possible mechanisms, we assume that a second gamete fusion occurred after the first cell division of the zygote. According to this interpretation, the mosaicism arose in very early pregnancy (at the two-cell stage). This discrepancy can therefore be explained by selection pressure, due to the differentiation processes in the embryonic tissues.