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61.
Abnormal pattern detected in fragile-X patients by pulsed-field gel electrophoresis. 总被引:26,自引:0,他引:26
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
62.
A. Fernández-Guasti K. Larsson C. Beyer 《Cellular and molecular life sciences : CMLS》1985,41(11):1414-1416
Summary Intracerebral infusion of (+) bicuculline methiodide, but not of its (–) isomer, in the preoptic area, stimulated masculine sexual behavior in rat as evidenced by a decrease in the number of intromissions preceding ejaculation and a shortening of the ejaculation latency and postejaculatory interval. Data suggest a role of the GABAergic system in mediating masculine sexual behavior.Acknowledgments. Authors wish to thank Ms Elisabeth Wallin for excellent technical assistance and Ms Madelene Kröning for preparing the figures. 相似文献
63.
J. S. Frankel 《Cellular and molecular life sciences : CMLS》1982,38(6):673-674
Summary The tissue specificity of lactate dehydrogenase (EC 1.1.1.27) in brain and eye of the teleostPhallichthys amates was examined by acrylamide gel electrophoresis. It is suggested that subunit association is a function of gene product accessibility superimposed upon genetic restriction of assembly. 相似文献
64.
A. Gutnisky P. Glikman M. F. Gimeno A. L. Gimeno 《Cellular and molecular life sciences : CMLS》1982,38(1):116-117
Summary The administration of 15(R)-15-methyl prostaglandin E2 (15(R)-15-M-PGE2) in vivo significantly diminished the uptake of59Fe into blood, spleen, liver, femur and dried intestine of rats, whereas acetylsalicylic acid (ASA) increased the counts significantly. This effect of ASA was counteracted by 15(R)-15-M-PGE2. It is suggested that prostaglandins (PGs) might play an important role in inhibiting iron absorption at the intestinal level.This work was supported by grant No.6638 from CONICET (Argentina). The technical assistance of Mrs María E. Castro and Norma Rizzo is gratefully acknowleged. 相似文献
65.
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
66.
Chromosomal effects of adeno-associated virus vector integration. 总被引:17,自引:0,他引:17
Adeno-associated virus (AAV) vectors are currently being used in several clinical gene-therapy trials (see the NIH OBA Human Gene Transfer Clinical Trials Database); however, little is known about the chromosomal effects of vector integration. Here we report that integrated vector proviruses are associated with chromosomal deletions and other rearrangements and are frequently located on chromosome 19 (although not at the wildtype AAV integration site). 相似文献
67.
During the evolution of proteins the pressure to optimize biological activity is moderated by a need for efficient folding. For most proteins, this is accomplished through spontaneous folding to a thermodynamically stable and active native state. However, in the extracellular bacterial alpha-lytic protease (alphaLP) these two processes have become decoupled. The native state of alphaLP is thermodynamically unstable, and when denatured, requires millennia (t1/2 approximately 1,800 years) to refold. Folding is made possible by an attached folding catalyst, the pro-region, which is degraded on completion of folding, leaving alphaLP trapped in its native state by a large kinetic unfolding barrier (t1/2 approximately 1.2 years). alphaLP faces two very different folding landscapes: one in the presence of the pro-region controlling folding, and one in its absence restricting unfolding. Here we demonstrate that this separation of folding and unfolding pathways has removed constraints placed on the folding of thermodynamically stable proteins, and allowed the evolution of a native state having markedly reduced dynamic fluctuations. This, in turn, has led to a significant extension of the functional lifetime of alphaLP by the optimal suppression of proteolytic sensitivity. 相似文献
68.
We discuss a generalization of the standard notion of probability space and show that the emerging framework, to be called operational probability theory, can be considered as underlying quantal theories. The proposed framework makes special reference to the convex structure of states and to a family of observables which is wider than the familiar set of random variables: it appears as an alternative to the known algebraic approach to quantum probability. 相似文献
69.
A. E. Yassen H. A. Hassan L. S. Kawashti 《Cellular and molecular life sciences : CMLS》1994,50(11-12):1111-1114
A detailed karyotypic analysis of two Egyptian species of bats,Taphozous perforatus andTaphozous nudiventris, was made on the basis of conventional data and G-band patterns. No detectable karyotypic difference was found between the two species (2n=42, F.N. 64). By comparison of G-band patterns, some differences between the two species were seen in the corresponding autosomal pairs. These results are reported for the first time in Egypt. 相似文献
70.
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