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11.
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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Urinary tract anomalies are common. Prenatal diagnosis is important and enables either special obstetric management or termination of pregnancy and probably in the future, intrauterine intervention. Transvaginal sonography (TVS) allows visualization of the normal and anomalous fetal urinary tract at an early stage. One thousand nine hundred and forty women were examined via TVS at an early stage of pregnancy between 10 and 16 weeks from the last menstrual period (LMP) and 35 anomalies (1·8 per cent) were clearly identified: 29 cases of low urinary tract obstruction, 2 cases of multicystic dysplastic kidney, 2 cases of polycystic kidney (infantile type), 1 case of double collecting system, and 1 case of horseshoe kidney. Potter syndrome could be ruled out in three patients who had delivered fetuses suffering from this anomaly in previous pregnancies. The concise and early identification of anomalies makes TVS an important aid in the hands of the obstetrician, ultrasonographer, and neonatologist. 相似文献
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Marcy C. Speer Margaret A. Pericak-Vance Larry H. Yamaoka James Koh Wu-Yen Hung Peter C. Gaskell Jr. Jeffery M. Vance Richard J. Bartlett Allen D. Roses 《黑龙江环境通报》1988,8(6):427-437
Accurate carrier testing and prenatal diagnosis in Duchenne muscular dystrophy (DMD) families is facilitated when an Xp21 deletion is found to be segregating within a family. We discuss the results of the DNA testing in two families, one in which DNA from affected males was available for study and the other in which no DNA from an affected male was available. Factors complicating the counselling of DMD deletion families are outlined. 相似文献
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介绍了金山店铁矿通风系统多级站和机站设计;阐述了该项目的施工,检测及通风效果评估情况;对安全生产提出了全面,系统的建议。 相似文献
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小径薄壁管广泛用于工艺管道中,在对其进行无损探伤时,一般采用双壁双影椭圆成像法和双壁重叠成像法,针对小径薄壁管对接焊缝透照成像的特殊要求,具体介绍双壁双影椭圆成像法的透照布置方法。 相似文献
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Joseph F. Wilson Brad L. Kinsey Yannis P. Korkolis 《Journal of Manufacturing Processes》2013,15(4):580-585
Characterization of the evolving yield loci and forming limit diagrams for sheet materials under biaxial loading is necessary for the development of accurate sheet metal forming process simulations. Biaxial tension testing has been shown to have significant advantages over the current computational and experimental methods for such material characterization; however, the few commercially available loading frames are far too large and expensive to be practical for most metal forming research laboratories. In this paper, the design of a practical servohydraulic biaxial loading frame is presented. The design, control, and operation of the loading frame are discussed in detail, and experimental data is provided to validate the effectiveness of the control system with respect to specimen center shifting. 相似文献
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