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91.
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. 相似文献
92.
Harold N. Bass Joan B. Oliver Murali Srinivasan Ruth Petrucha Won Ng Jo Ellen S. Lee 《黑龙江环境通报》1986,6(1):33-35
Intrauterine fetal demise (IUFD) in one of twins at 12 weeks of gestation was accompanied by markedly elevated maternal serum alpha-fetoprotein (AFP) at 17 and 18 weeks. Amniotic fluid AFP from the healthy surviving twin's sac at 18·5 and 23 weeks was also greatly increased along with a positive acetylcholinesterase (AChE) band. Persistently elevated AFP and positive AChE so long after fetal demise–-6·5 and 11 weeks post IUFD–-has not, to our knowledge, been previously described. In similar cases, high level ultrasound and careful placental examination at birth should be utilized to search for fetal abnormalities or multiple pregnancy with IUFD. 相似文献
93.
R. B. H. Schutgens G. Schrakamp R. J. A. Wanders H. S. A. Heymans H. W. Moser A. E. Moser J. M. Tagers H. V. D. Bosch P. Aubourm 《黑龙江环境通报》1985,5(5):337-344
Prenatal diagnosis of the cerebro-hepato-renal (Zellweger) syndrome has been performed in 10 pregnancies at risk by measuring both the activity of acyl CoA: dihydroxyacetonephosphate acyltransferase (DHAP-AT) and the de novo plasmalogen biosynthesis, either in cultured amniotic fluid cells or in fibroblasts cultured from a chorionic villus biopsy. In 7 of the pregnancies both tests indicated no abnormality. All 7 continued to term and normal infants were delivered. However, in amniotic fluid cells from 2 fetuses affected by Zellweger syndrome unequivocal differences from control values were found. The activity of DHAP-AT was clearly deficient and the de novo plasmalogen biosynthesis was impaired. In one pregnancy at risk prenatal diagnosis was performed during the first trimester by measuring both the DHAP-AT activity and the de novo plasmalogen biosynthesis in fibroblasts cultured from a chorionic villi biopsy. From the deficient DHAP-AT activity and the impaired de novo plasmalogen biosynthesis it was concluded that the fetus was affected. This was confirmed biochemically after induced abortion. It can be concluded that measurement of the DHAP-AT activity and the de novo plasmalogen biosynthesis provides convenient methods for the early prenatal detection of Zellweger syndrome. 相似文献
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HLA typing of amniotic fluid cells has been used for the prenatal diagnosis of the HLA linked diseases congenital adrenal hyperplasia (21-OH-deficiency (21-OH-def) type) and complement C4 deficiency and it has also been used for the prenatal de termination of paternity. There are, however, technical difficulties in this test associated with the weak expression of some B locus antigens on amniotic fluid cells, and theoretical difficulties related to associations between particular HLA antigens and the 21-OH-def allele. Since certain HLA-B locus antigens are found in significantly increased frequencies among patients with 21-OH-def, there is a relatively high incidence of HLA-B homozygosity among the patients and over 40 percent of the parents of these patients share one or more HLA-B locus antigens. Results of some prenatal HLA typing tests may thus be difficult to interpret, and supplementary tests should be used whenever possible. HLA typing of amniotic cells is, however, the only available procedure for prenatal diagnosis of C4 deficiency and it is the best available procedure for prenatal determination of paternity. A modification of our original procedure allows HLA typing to be performed with increased numbers of HLA typing sera, and sera with optimum reactivity for amniotic fluid cells have now been selected for the definition of most of the more commonly expressed HLA antigens. Although amniotic fluid cells do not express DR antigens, amniotic fluid cells can be typed for the HLA-linked marker glyoxalase I (GLO) and this may be the informative for prenatal diagnosis in some cases. 相似文献
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L. Zetterberg S. Uppenberg M. Åhman 《Mitigation and Adaptation Strategies for Global Change》2004,9(1):37-76
The climate impact from the useof peat for energy production in Sweden hasbeen evaluated in terms of contribution toatmospheric radiative forcing. This wasdone by attempting to answer the question`What will be the climate impact if onewould use 1 m2 of mire for peatextraction during 20 years?'. Two differentmethods of after-treatment were studied:afforestation and restoration of wetland.The climate impact from a peatland –wetland scenario and a peatland –forestation – bioenergy scenario wascompared to the climate impact from coal,natural gas and forest residues.Sensitivity analyses were performed toevaluate which parameters that areimportant to take into consideration inorder to minimize the climate impact frompeat utilisation. In a `multiple generationscenario' we investigate the climate impactif 1 Mega Joule (MJ) of energy is produced every yearfor 300 years from peat compared to otherenergy sources.The main conclusions from the study are:?The accumulated radiative forcing from the peatland – forestation – bioenergy scenario over a long time perspective (300 years) is estimated to be 1.35 mJ/m2/m2 extraction area assuming a medium-high forest growth rate and medium original methane emissions from the virgin mire. This is below the corresponding values for coal 3.13 mJ/ m2/ m2 extraction area and natural gas, 1.71 mJ/ m2/ m2 extraction area, but higher than the value for forest residues, 0.42 mJ/ m2/ m2 extraction area. A `best-best-case' scenario, i.e. with high forest growth rate combined with high `avoided' methane (CH4) emissions, will generate accumulated radiative forcing comparable to using forest residues for energy production. A `worst-worst-case' scenario, with low growth rate and low `avoided' CH4 emissions, will generate radiative forcing somewhere in between natural gas and coal.?The accumulated radiative forcing from the peatland – wetland scenario over a 300-year perspective is estimated to be 0.73 –1.80 mJ/ m2/ m2 extraction area depending on the assumed carbon (C) uptake rates for the wetland and assuming a medium-high methane emissions from a restored wetland. The corresponding values for coal is 1.88 mJ/ m2/ m2 extraction area, for natural gas 1.06 mJ/ m2/ m2 extraction area and for forest residues 0.10 mJ/ m2/ m2 extraction area. A `best-best-case' scenario (i.e. with high carbon dioxide CO2-uptake combined with high `avoided' CH4 emissions and low methane emissions from the restored wetland) will generate accumulated radiative forcing that decreases and reaches zero after 240 years. A `worst-worst-case' (i.e. with low CO2-uptake combined with low `avoided' CH4 emissions and high methane emissions from the restored wetland) will generate radiative forcing higher than coal over the entire time period.?The accumulated radiative forcing in the `multiple generations' – scenarios over a 300-year perspective producing 1 MJ/year is estimated to be 0.089 mJ/ m2 for the scenario `Peat forestation – bioenergy', 0.097 mJ/ m2 for the scenario `Peat wetland with high CO2-uptake' and 0.140 mJ/ m2 for the scenario `Peat wetland with low CO2-uptake'. Corresponding values for coal is 0.160 mJ/ m2, for natural gas 0.083 mJ/ m2 and for forest residues 0.015 mJ/ m2. Using a longer time perspective than 300 years will result in lower accumulated radiative forcing from the scenario `Peat wetland with high CO2-uptake'. This is due to the negative instantaneous forcing that occurs after 200 years for each added generation.?It is important to consider CH4 emissions from the virgin mire when choosing mires for utilization. Low original methane emissions give significantly higher total climate impact than high original emissions do.?Afforestation on areas previously used for peat extraction should be performed in a way that gives a high forest growth rate, both for the extraction area and the surrounding area. A high forest growth rate gives lower climate impact than a low forest growth rate.?There are great uncertainties related to the data used for emissions and uptake of greenhouse gases in restored wetlands. The mechanisms affecting these emissions and uptake should be studied further. 相似文献