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Extensive restriction site polymorphism at the human phenylalanine hydroxylase locus and application in prenatal diagnosis of phenylketonuria 总被引:4,自引:0,他引:4
AS Lidsky FD Ledley AG DiLella SC Kwok SP Daiger KJ Robson SL Woo 《Canadian Metallurgical Quarterly》1985,37(4):619-634
A total of 10 restriction site polymorphisms have been identified at the human phenylalanine hydroxylase locus using a full-length human phenylalanine hydroxylase cDNA clone as a hybridization probe to analyze human genomic DNA. These polymorphic patterns segregate in a Mendelian fashion and concordantly with the disease state in various PKU kindreds. The frequencies of the restriction site polymorphisms at the human phenylalanine hydroxylase locus among Caucasians are such that the observed heterozygosity in the population is 87.5%. Thus, most families with a history of classical phenylketonuria can take advantage of the genetic analysis for prenatal diagnosis and carrier detection of the hereditary disorder. 相似文献
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Lawrence M. Lidsky 《Journal of Fusion Energy》1982,2(4-5):269-292
It is shown that deuterium based fusion fuels and reactors based on them face severe technological disadvantages in comparison with fission based systems as power sources for central station electric power plants. The author postulates the most plausible deuterium based fusion reactor consistent with the physics of the fusion reaction itself and compares this reactor (called OMR-DT) with existing fission reactors. Since neutrons are the main problem in fusion, the author suggests that a great deal more effort should be given to the study of non-Maxwellian plasmas with the emphasis on neutron-free fuel cycles. The author also suggests that the deuterium based fusion driver may play its best role as a fissile fuel producer. 相似文献
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Gustafson John W.; Lidsky T. I.; Schwartzbaum J. S. 《Canadian Metallurgical Quarterly》1975,89(10):1136
In 6 experiments, a total of 142 male Holtzman rats implanted with electrodes in the dorsal or ventral hippocampus received posttrial stimulation in training sessions with footshock reinforcement. Afterdischarges without overt seizures were consistently without effect on the rate of acquisition of suppression of licking during an auditory CS, although conditioning was retarded by the delivery of distracting stimuli following footshock. The rate of conditioning remained insensitive to elicitation of dorsal hippocampal afterdischarges (DHAD) despite subsequent alterations of session length, intertrial interval, and preexposure to the CS. However, faster extinction of suppression occurred following DHAD, suggesting a limited but essential role of the hippocampus in addressing stored information. (28 ref) (PsycINFO Database Record (c) 2010 APA, all rights reserved) 相似文献
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R Cadle MD Lidsky MC Rodriguez-Barradas 《Canadian Metallurgical Quarterly》1997,32(7):177, 182-177, 184