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Five nucleotide changes in the large intervening sequence of a beta globin gene in a beta+ thalassemia patient. 总被引:3,自引:2,他引:1 下载免费PDF全文
S E Spence R G Pergolizzi M Donovan-Peluso K A Kosche C S Dobkin A Bank 《Nucleic acids research》1982,10(4):1283-1294
A beta globin gene from a patient with homozygous beta+ thalassemia has been cloned and completely sequenced. No changes from normal are found in the 200 nucleotides 5' to the cap site, in the 3' untranslated region up to the poly A addition site, in the small intervening sequence (IVS 1), or in the coding sequence except for a third base change in codon 2. The only other differences are in the large intervening sequence (IVS 2). One of these, at a position 16 nucleotides from the 5' end of IVS 2, has been reported previously in normal individuals, and is probably a polymorphism. Four other changes, at positions 74, 81, 666, and 705 are also seen in IVS 2. Abnormal beta globin mRNA precursors detected in the bone marrow cells of this patient, and abnormal beta globin RNA splicing observed when this gene is transcribed in a tissue culture system taken together with these IVS 2 changes, suggest that the beta+ thalassemia phenotype is produced by a decrease in normal beta globin mRNA processing. 相似文献
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Replication complexes containing only one molecule of Q beta replicase and one strand of midivariant RNA (MDV-1 RNA) template were prepared by incubating the replicase with an excess of MDV-1 (-) RNA. In the presence of excess minus strands, these monoenzyme replication complexes were shown to synthesize essentially pure MDV-1 (+) RNA in both the first and second cycles of replication. When an equivalent concentration of mutant MDV-1 (-) RNA was added to this reaction before completion of the first cycle of replication, only wild-type MDV-1 (+) RNA was produced in the first cycle, but both mutant and wild-type MDV-1 (+) RNA were produced in the second cycle of replication. These results demonstrate that a monoenzyme complex is competent to synthesize RNA and, therefore, that a multienzyme replication complex is not a necessary intermediate of replication. The data also imply that after the completion of chain elongation, the product strand is released from the replication complex and that the template and the replicase then dissociate. 相似文献
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A PvuII RFLP detected in the human prion protein (PrP) gene. 总被引:3,自引:1,他引:3
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David S. Dobkin 《Ethology : formerly Zeitschrift fur Tierpsychologie》1979,50(4):348-363
Vocal copying (vocal imitation, vocal mimicry, and vocal convergence) in birds is reviewed and synthesized by placing these phenomena in a functional and evolutionary framework. Confusion surrounding avian vocal copying has resulted from vague and inconsistently applied terminology, virtually no experimental field work, and a failure to consider vocal copying in an evolutionary perspective. Four categories of vocal copying are recognized herein: vocal appropriation, vocal imitation, vocal mimicry, and vocal convergence or nondivergence. Vocal mimicry, a vocalization that serves to deceive a signalreceiver, is the rarest of the four categories and has not been verified experimentally. 相似文献