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Ninety-two families with spinal muscular atrophy (SMA) applied for genetic counselling and further prenatal diagnosis. To minimize expenses, only one tightly linked informative marker was determined in the course of preliminary examination, and non-radioactive allele detection was preferably used. Four prenatal diagnoses of SMA type I, four of SMA type II, and one of SMA type III were made. This trial programme shows the considerable requirements, importance, and potential effectiveness of prenatal prediction of SMA in Russia.  相似文献   
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A 17-year-old woman was referred for amniocentesis due to a low maternal serum alpha-fetoprotein (AFP) concentration in a voluntary screening test. The fetal karyotype was 48,XXYY, and the pregnancy was terminated. Autopsy of the fetus disclosed agenesis of the corpus callosum and unusual facial features.  相似文献   
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Fetal aspartylglucosaminuria (AGU) was studied during the first trimester of pregnancy in six at-risk pregnancies using chorionic villus samples. The activity of aspartylglucosaminidase (AGA) was high in five cases, indicating an unaffected fetus. This was confirmed through delivery of healthy newborns with a normal pattern of urinary oligosaccharides. Low enzyme activity in an uncultured biopsy specimen and in cultured amniotic fluid cells in one case demonstrated that the fetus was affected. The pregnancy was terminated and the prenatal diagnosis was confirmed by showing reduced AGA activity in cultured fibroblasts of the fetus.  相似文献   
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In Acromyrmex octospinosus leaf-cutting ants the metapleural glands produce an array of antibiotic compounds that serve as a general defence against unwanted microbes on the cuticle. Leaf-cutting ants also grow mutualistic Pseudonocardiaceae bacteria on their cuticle that produce antibiotics controlling a microfungal parasite of their fungus gardens. Interaction between this bacterium and gland secretion therefore seems unavoidable. We document the typical development of bacterial growth on the cuticle of young major workers, show that growth starts a few days after eclosion, and that the maximal cover is reached after 2–3 weeks and gradually declines when workers mature. Experimental closure of the metapleural glands had no effect on the initial exponential growth phase of the bacterium, but significantly reduced the cover during the decline phase. The age-dependent abundance of the bacterium and its partial dependence on metapleural gland secretion support the hypothesis that the abundance of this mutualist is actively regulated.  相似文献   
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Nitrogen (N) availability is a very important determinant of crop yield. It is also one of the most expensive inputs in crop production. Thus, the efficient management of N by farmers with limited resource is a very important part of successful soil and crop management system. A field study was conducted on a Norfolk sandy loam soil at the George Washington Carver Agricultural Experiment Station, Tuskegee, AL, to evaluate the influence of fertilizer source and timing on the yield of four sweet potato [Ipomoea batatas (L.)] cultivars. Two N sources (urea, CO(NH2)2 and ammonium nitrate, NH4NO3), four sweet potato cultivars (‘Georgia Jet’, GA-Jet; ‘TU-82-155’, TU-155; ‘TU-1892’; and ‘Rojo Blanco’, Rojo-Bl) and three times (zero, single, and split applications) were used in a factorial designed experiment. Plants were harvested after 80 and 120 days and total and marketable yields determined. Nitrogen recovery efficiency, yield efficiency and physiological efficiency were also determined. Total and marketable yields of early maturing cultivars were significantly higher than of late maturing cultivars (P<0.05). The single application of N resulted in significantly higher yield in storage roots than split application (P<0.05). Physiological efficiency values were highly correlated with total marketable yields. Recovery rates increased with time. Late maturing cultivars tended to have higher N recovery and physiological efficiency than early maturing cultivars. These results suggest that cultivar maturity group should play an important part in N fertilization recommendations for sweet potato.  相似文献   
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Stratigraphy, lithology and depositional structures of Liassic red limestone-breccias of the Adnet Formation, including the 'Adnet Scheck', were studied at several outcrops of the Northern Calcareous Alps (NCA) south-east of Salzburg. A four-fold lithostratigraphic division is proposed for the Adnet Formation of the Osterhorn Mountains: the hemipelagic Schmiedwirt (Sinemurian) and Kehlbach (Carixian) members are separated from the pelagic Saubach Member (Toarcian) by a layer of amalgamated breccias (Scheck Member, probably Domerian to early Toarcian). Several other breccia beds occur locally from the base of the Kehlbach Member up to the lower Saubach Member. Although the sediments overlying the Scheck Member breccias are of coeval age, the ages of the underlying strata are very different. This can be explained by submarine Liassic erosion during a period of resedimentation from the middle Carixian until the early Toarcian. At least 10–15?m of partly lithified sediments were eroded by gravity flows. The entire Kehlbach Member and up to two-thirds of the Schmiedwirt Member were removed at Adnet. The breccias originated from submarine debris flows. Repeated flows over a long period and the depositional setting exclude a triggering by sea-level fluctuations. Most probably they arose from tectonically triggered slumps and slides of superficial sediments. The 'Scheck' was initiated on the steep upper slope of the drowned Triassic Adnet reef and flowed to the north-east.The Pliensbachian to early Toarcian period of tectonic activity indicated by the breccias was the most important during the Liassic in the Osterhorn Mountains and other parts of the NCA. From the large-scale regional distribution of the breccias and in accord with published data, a roughly north-east trending strike-slip fault zone is proposed, crossing the NCA south of the Osterhorn block, with a peaking activity during the Pliensbachian to early Toarcian as the cause of the tectonic movements.  相似文献   
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