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411.
M. S. Ristaldi M. Pirastu C. Rosatelli G. Monni H. Erlich R. Saiki Professor A. Cao 《黑龙江环境通报》1989,9(9):629-638
In this study, we describe a simple strategy to detect β-thalassaemia mutations in prospective parents and to make prenatal diagnosis in pregnancies at risk in the Mediterranean population. Screening of prospective parents is carried out by dot blot analysis on enzymatically amplified DNA with a set of oligonucleotide probes complementary to the most common mutations in this population. Prenatal diagnosis is accomplished by the same procedure on enzymatically amplified amniocyte or trophoblast DNA. The main advantages of this procedure are the simplicity, sensitivity (0.05 μg of DNA), and rapidity (12–24 h). Further simplification is obtained by amplification of the DNA from crude amniotic cell lysate. The very low amount of fetal material necessary for this analysis eliminates the need to culture amniotic fluid cells and may decrease the fetal loss rate associated with trophoblast sampling. The number of specific DNA sequences obtained by the amplification procedure allowed us to use non-radioactive labelled oligonucleotide probes, which have several advantages compared to radioactive probes. 相似文献
412.
Prenatal diagnosis in a kindred with the Opitz (BBB) syndrome is presented. The inheritance is consistent with either autosomal dominant inheritance with sex limited expression or X-linked inheritance. The abnormalities in the kindred consist of hypertelorism, hypospadias, ambiguous genitalia, urocolic fistula, imperforate anus, mental retardation, diaphragmatic hernia, and malrotation with volvulus. A male fetus at 19 weeks was found by ultrasound to have hypertelorism and hypospadias with a small phallus consistent with the syndrome. The diagnosis was confirmed by pathologic examination after pregnancy termination. This is the first report of prenatal diagnosis of Opitz syndrome by ultrasonographic demonstration of hypertelorism and hypospadias in the second trimester. 相似文献
413.
Amniocentesis at 17 weeks' gestation revealed a mosaic karyotype—46,XX/46,XX, — 14,+dic(14)(p11). No abnormalities were detected on ultrasound. Growth and placentation were normal. The fetus was examined after termination of pregnancy and micrognathia and pulmonary hyperlobation were the only abnormalities detected. Several tissues were set up for cytogenetics, including fetal skin, kidney, ovary, and placenta. The diagnosis was confirmed by these studies. The level of mosaicism varied between tissues, with the trisomy 14 cell line highest in amniotic fluid. 相似文献
414.
在硫酸介质中,邻苯氨基苯甲酸与硝酸盐(NO_3~-)生成紫红色络合物.本文依据悬浮颗粒对光的吸收性质研究利用该灵敏反应测定 NO_3~—N 新光度法——(?)次双波长法,通过对样品分析,可提高分析灵敏度和精密度,回收良好,且操作简单快速,计算曲线稳定,适合于测定地下水,湖水等天然水体 NO_3~-—N. 相似文献
415.
Prenatal diagnosis in a pregnancy at risk for a juvenile B1 variant of GM2-gangliosidosis was carried out. The biochemical study of the cultured amniocytes and the affected fetal brain is reported. The results obtained show that the sulphated artificial substrate can be used in the diagnosis of B1 variant, but not the neutral one. The accumulation of GM2-ganglioside in the fetal brain of the B1 juvenile form and an infantile form of GM2-gangliosidosis (0 variant) was compared. 相似文献
416.
用系统工程的思想,以三峡工程为例,建立了大型水电工程对环境与生态影响的综合评价指标体系,环境受影响程度的等级划分和评价标准,提出多级线性加权和模糊数学综合评判模型,并给出综合评价结果。 相似文献
417.
418.
In this paper, impacts of climate change on wheat development rate and production in the northern China are discussed. The results show that the temperature is a controlling factor of development rate but the precipitation is not. The higher the temperature is. the faster the development and the shorter development period will be. Without consideration to varieties and cropping system, meteorological yield of winter wheat would decrease 170.40, 134.25, 98.70 and 97.20 kg/hm2 in the north China and 13.97, 7.95, 39.60 and 19.80 kg/hm2 in the northwest China compared with that in 1950s, 1960s, 1970s and 1980s, respectively, when the CO2 concentration in the atmosphere is doubled. In drought and semi-drought regions, the spring wheat yield would drop with the temperature rise in and raise with the precipitation increase. The influence of temperature on weight of leaf and stalk is also remarkable. 相似文献
419.
环境中的多氯二苯并二(口恶)(口英)(PCDD_s)和多氯二苯并呋喃(PCDF_s)是当今最受重视的污染物之一,其中PCDD_s有75个异构体而PCDF_s有135个异构体,它们的毒性大小显著地依赖于氯原子的取代数和取代位置,由于这类污染物的低溶解度和高的辛醇/水分配系数,主要分布在土壤(85%)和沉积物(14%)中,只有1%进入空气、水和生物体.在自然环境中这类污染物代谢降解速度缓慢,从而增加了环境污染的复杂性.而鉴别这类污染物就成为一个主要研究课题. 相似文献
420.
An efficient, reproducible and rapid fused silica capillary column gas chromatographic method, in splitless mode, for analysing of the three chloroanthracene isomers is described. The method affords efficient separation and good linearity for each isomer in the range of 0.2 -200 μg/ml. The method can also be used in separation and determination of another thirty three aromatic and their halosubstituted compounds. This paper also presents the applications of the method in analysing of complex products mixture from reaction of the selected aromatic compounds with hydrogen chloride on fly ash surface from municipal incinerator. 相似文献