Preimplantation genetic diagnosis of the fragile X syndrome by use of linked polymorphic markers

Fragile X syndrome is the most common cause of familial mental retardation. The most common mutation is expansion of a triplet (CGG)_n repeat in the 5′ untranslated region of the FMR1 gene on Xq27.3. The expansion is refractory to PCR due to preferential amplification of the smaller allele in heterozygous cells and the high GC content of the repeat and surrounding sequences. Direct detection of the normal parental alleles in preimplantation embryos has been used for preimplantation genetic diagnosis (PGD) of this disorder. However, this approach is only suitable for approximately 63% of couples due to the heterozygosity of the repeat in the normal population. As an alternative we investigated the use of polymorphic markers flanking the mutation to track the normal and premutation carrying maternal chromosomes in preimplantation embryos. Using a panel of 11 polymorphisms, six (CA)_n repeats and five single nucleotide polymorphisms, diagnosis was developed for 90% of referred couples. Multiplex amplification of informative markers was tested in 300 single buccal cells from interested couples with efficiency and allele drop out (ADO) rates ranging from 69% to 96% and 6% to 18%, respectively. Use of this approach is accurate and applicable to a larger number of patients at risk of transmitting fragile X to their offspring. Copyright © 2001 John Wiley & Sons, Ltd.     

Contaminant exposure in terrestrial vertebrates

Here we review mechanisms and factors influencing contaminant exposure among terrestrial vertebrate wildlife. There exists a complex mixture of biotic and abiotic factors that dictate potential for contaminant exposure among terrestrial and semi-terrestrial vertebrates. Chemical fate and transport in the environment determine contaminant bioaccessibility. Species-specific natural history characteristics and behavioral traits then play significant roles in the likelihood that exposure pathways, from source to receptor, are complete. Detailed knowledge of natural history traits of receptors considered in conjunction with the knowledge of contaminant behavior and distribution on a site are critical when assessing and quantifying exposure. We review limitations in our understanding of elements of exposure and the unique aspects of exposure associated with terrestrial and semi-terrestrial taxa. We provide insight on taxa-specific traits that contribute, or limit exposure to, transport phenomenon that influence exposure throughout terrestrial systems, novel contaminants, bioavailability, exposure data analysis, and uncertainty associated with exposure in wildlife risk assessments. Lastly, we identify areas related to exposure among terrestrial and semi-terrestrial organisms that warrant additional research.     

沟渠式生物接触氧化法对有机物和氨氮的去除研究

生物接触氧化工艺是目前较为成熟的水质净化技术,国内外在河流水质净化、水体修复中都有较多的研究和应用.在实验室采用沟渠式生物接触氧化组合系统处理模拟村庄面源污水,较好地去除了有机物并实现氨氮转化.结果表明,当进水COD为130～290mg/L、氨氮为30～40mg/L、水力负荷为0.19～0.24m3/(m2·d)的条件下,该系统稳定运行11周,COD和氨氮的平均去除率分别达85%和79%.     

双循环多级水幕脱硫塔的设计和性能测试

双循环多级水幕脱硫塔是在常规两段式湿法脱硫塔基础上加以改进而成的新型脱硫塔,其双循环浆液采用不同pH控制,低pH促进CaCO2溶解,高pH提高SO2吸收效果;同时,多级水幕强化气液流态,增加气液接触面积和传质动力,促进对SO2的吸收.实验利用SPSSV13.0软件进行正交实验设计,通过数据分析得出两个不同的优化运行方案,再利用多指标分析法中的综合平衡法进行单因素实验,得出最优运行方案.在最优运行方案条件下,即烟气流量为100 m3/h,上循环浆液pH为6.0,下循环浆液pH为4.8,上、下循环液气比均为20 L/m3,人口 SO2质量浓度为1 000mg/m3时,脱硫效率达97.8%,CaCO3利用率为95.2%,钙硫质量比约为1.03.双循环多级水幕脱硫塔具有良好的应用前景,实验结果对现场脱硫系统的调试和运行有很好的参考价值.     

Prenatal diagnosis of mosaicism for triploidy and trisomy 13

Mosaicism for trisomy 13 and triploidy was detected by amniocentesis performed at 18 weeks' gestation because of fetal anomalies. Pregnancy continued and a live-born male was delivered vaginally at 37 weeks. The infant had features common to both trisomy 13 and triploidy: intrauterine growth retardation (IUGR), small abnormal ears, cleft palate, and a small jaw. In addition, he had complete cutaneous syndactyly of fingers 3 and 4 and partial syndactyly of the toes, as seen in triploidy. Mixoploidy for trisomy 13 and triploidy was confirmed postnatally in blood, skin, and placenta. Examination of chromosome heteromorphisms and DNA markers suggested the presence of two maternal contributions in the triploid cell line. In addition, the extra chromosome 13 in the trisomic cell line was derived from the mother. Copyright © 2001 John Wiley & Sons, Ltd.     

Reproduction and population dynamics of the fissiparous brittle star Ophiactis savignyi (Echinodermata: Ophiuroidea)

Reproductive cycle, asexual reproduction, and population dynamics of the fissiparous brittle star, Ophiactis savignyi, which inhabits the exhalant passages of the sponge Haliclona sp. were examined monthly from February 1991 to January 1992 at Wanlitung, southern Taiwan (22°N; 120°E). Mature gametes were found from March to December, but release was mainly in May and June. Sexual recruits were found from May to December, with the highest frequency (14.1% of population) in June. Sexual recruits composed 2.4% of the 1-yr sample. Sex ratio of male to female was 24:1. Fission occurred throughout the year, although the frequency of recently split individuals was lower from January to June (6 to 31%), and higher from July to December (42 to 52%). The occurrence of fission was highest after spawning. Regenerating individuals composed 48.2% of the 1-yr sample. Population density fluctuated greatly during summer due to recruitment by fission and mortality or dispersal due to the stressful environmental conditions. Both sexual and asexual reproduction of O. savignyi were successful at this site.     

What Exactly Is an Endangered Species? An Analysis of the U.S. Endangered Species List: 1985–1991

Critics of the Endangered Species Act have asserted that is protects an inordinate number of subspecies and populations, in addition to full species, and that the scientific rationale for listing decisions is absent or weak. We reviewed all U.S. plants and animals proposed for listing or added to the endangered species list from 1985 through 1991 to determine the relative proportion of species, subspecies, and populations, and their rarity at time of listing. Approximately 80% of the taxa added to the list were full species, 18% were subspecies, and 2% were distinct populations segments of more widespread vertebrate species. The proportion of subspecies and populations was considerably higher among birds and mammals than among other groups. The median populations size at time of listing for vertebrate animals was 1075 individuals; for invertebrate animals it was 999. The median population size of a plant at time of listing was less than 120 individuals. Earlier listing of declining species could significantly improve the likelihood of successful recovery, and it would provide land managers and private citizens with more options for protecting vanishing plants and animals at less social or economic cost.