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11.
A Vincent  D Heitz  C Petit  C Kretz  I Oberlé  J L Mandel 《Nature》1991,349(6310):624-626
The fragile-X syndrome is the most frequent inherited form of mental retardation, with an incidence of 1 in 1,500 males. It is characterized by the presence of a fragile site at Xq27.3 induced in vitro by folate deprivation or by inhibitors of deoxynucleotide synthesis. Its mode of inheritance is unusual for an X-linked trait, with incomplete penetrance in both males and females. Some phenotypically normal males transmit the mutation to all their daughters who rarely express any symptoms, but penetrance is high in sons and daughters of these carrier women. Genetic and physical mapping of the Xq27-q28 region has confirmed that the disease locus is located at or very near the fragile site. Hypotheses proposed to account for the abnormalities in the inheritance of the disease include sequence rearrangements by meiotic recombination or a mutation that affects reactivation of an inactive X chromosome during differentiation of female germ cells. To detect such rearrangements, or methylation changes that may reflect a locally inactive X chromosome, we used pulsed-field gel analysis of DNA from fragile-X patients with probes close to the fragile-X locus. The probe Do33 (DXS465) detected abnormal patterns in fragile-X patients, but not in normal controls or in non-expressing male transmitters.  相似文献   
12.
Summary Host cell reactivation capacity for ozone T3 phage was determined for differentE. coli strains deficient in one or more of the DNA repair mechanisms. The results indicate that DNA polymerase I appears to play a key role in the repair of damage produced on the DNA by ozone while thelexA gene product seems to play a minor one.This research was sponsored by the National Sciences and Engineering Council of Canada. One of us (PLH) acknowledges a scholarship from the NSERCof Canada.  相似文献   
13.
Summary Indoxyl derivatives were detected as minor products among the urinary metabolites of two trial drugs, a benzodiazepine (GP 55 129) and a benzophenone (CGP 11 952). Their structures were elucidated by NMR and mass spectroscopy. Presumably, metabolites containing potential aldehyde functions react spontaneously with endogenous indoxyl. Such derivatives have not hitherto been encountered in drug metabolism.  相似文献   
14.
本文研究了地下矿井内,电波沿巷道内线缆传播的可行性及单线波模的传播与衰减规律,研究巷道内电小天线与线缆之间的耦合情况,从而为实际工作提供理论依据。  相似文献   
15.
Experiments were carried out to elucidate the role of central catecholamines in regulating catecholamine metabolism in the vas deferens and adrenal gland of the rat. Rats were injected intracerebroventricularly (i.c.v.) with either vehicle or 6-hydroxydopamine (6-OHDA). Groups of animals pretreated with vehicle or 6-OHDA (i.c.v.) were injected intraperitoneally (i.p.) with alpha-methyl-para-tyrosine (AMT), a tyrosine hydroxylase inhibitor. Catecholamine turnover rates were estimated by determining norepinephrine or epinephrine content after administrating AMT.Central norepinephrine and dopamine contents decreased significantly (p<0.05) after treatment with 6-OHDA and AMT. The norepinephrine content of the vas deferens of rats pretreated with 6-OHDA was markedly reduced (p<0.001) after administration of AMT, whereas that of the vehicle-treated rats remained unchanged. Administration of 6-OHDA had no effect on the norepinephrine or epinephrine content of the adrenal gland.The present results indicate that central monoaminergic neurons have an inhibitory effect on the adrenergic neurons of the vas deferens. In contrast, this inhibitory regulation does not appear to be exerted on the adrenal glands.  相似文献   
16.
提出了一个关于氧化物半导瓷晶界势垒起源的新观点,认为晶界势垒起源于烧结过程中外界氧在晶界中的扩散,与材料的结构、化学缺陷、掺杂、外界气氛、烧结工艺、组成状态等有密切关系,并用此理论解释了许多实验现象。  相似文献   
17.
论述了交织编码的工作原理,给出了一种交织扩展Golay码的改进型软件设计方案,用TMS320C25实现了其编译码器并给出了模拟实验结果。实验结果表明,它能准确地纠正不大于72比特位的差错;处理128×128×8比特位的一幅图像数据的运行时间为0.412s.  相似文献   
18.
报道一种新颖的激光开槽、埋槽电极硅太阳电池的结构、工艺流程及其研制结果。在AM1.5,25℃,100mW/cm2的条件下,以面积为45cm3的36片硅片研制的硅太阳电池的输出参数的平均值为JSC=36.1mA/cm2,V∞=633mV,F.F.=0.798,η=18.23%,最后分析了种高性能硅太阳电池的设计特点。  相似文献   
19.
H Schorle  T Holtschke  T Hünig  A Schimpl  I Horak 《Nature》1991,352(6336):621-624
Interleukin-2 (IL-2) is a lymphocytotropic hormone which is thought to have a key role in the immune response of mammalian cells. It is produced by a subpopulation of activated T-lymphocytes and acts in vitro as the principal auto- and paracrine T-cell growth factor (for reviews see refs 1-3). IL-2 is, however, not the sole T-cell growth factor, nor does it act exclusively on T cells, also promoting growth of NK cells and differentiation of B cells. A role for IL-2 in T-cell development has been postulated but remains controversial. Here we test the requirement for IL-2 in vivo using IL-2-deficient mice generated by targeted recombination. We find that mice homozygous for the IL-2 gene mutation are normal with regard to thymocyte and peripheral T-cell subset composition, but that a dysregulation of the immune system is manifested by reduced polyclonal in vitro T-cell responses and by dramatic changes in the isotype levels of serum immunoglobulins.  相似文献   
20.
Summary A new bromotyrosine-derived alkaloid with antileukemic activity, purealidin A (5), has been isolated from the Okinawan marine spongePsammaplysilla purea and its chemical structure elucidated on the basis of the spectroscopic data.  相似文献   
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