Malignant hyperthermia (MH) is a clinical syndrome in which genetically susceptible individuals respond to the administration of potent inhalation anaesthetics and depolarization skeletal muscle relaxants with skeletal rigidity, unstable blood pressure, tachycardia, arrhythmias, hyperventilation, hypoxia, lactic and respiratory acidosis and high fever. In studies of the genetic basis of MH, a mutation was identified in the porcine (C1843T) and human (C1840T) skeletal muscle ryanodine receptor (RYR1) gene. This gene is mapped on human chromosome 19q13.1. The RYR1 gene contains 106 exons, of which two are alternatively spliced.
Two models of a queue are proposed: a human queue and two lines of vehicles before a narrowing. In both models, a queuer tries to evaluate his waiting time, taking into account the delay caused by intruders who jump to the queue front. As the collected statistics of such events is very limited, the evaluation can give very long times. The results provide an example, when direct observations should be supplemented by an inference from the context.
The RYR1 gene encoding the Ca2+ channel of sarcoplasmic reticulum of human skeletal muscle has been cloned and its nucleotide sequence has been determined earlier. We have used the polymerase chain reaction single strand conformation polymorphism (PCR-SSCP), and sequencing analysis for human, porcine (Sus scrofa), and zebrine (Equus grevyi) ryanodine receptor (ryr1) gene. The fragment of exon 17 of the ryr1 gene was characterized by a high homology between all the analysed species (substitution of a nucleotide is underlined): porcine ryr1 1834GTG GCC GTG CGC TCC AAC CAA GAT CT1859 human RYR1 1831GTG GCC GTG CGC TCC AAC CAA GAT CT1856 zebrine ryr1 GTG GCC GTG CGC TCC AAC CAA GAC CT.
This paper deals with the popularity of given names in the United States, for the period 1885-2009. Based on the data obtained from the website of U.S. Social Security Administration, it was demonstrated that the fashion of naming babies after the incumbent American president passed away in the '60s. At the same time, however, examples were given, mainly concerning celebrities, after whom babies are still named. The above theses were strengthened with the aid of quantitative data analysis by constructing an index dedicated to the specifics of the task under investigation. The obtained results were discussed in the terms of the rally effect and of the Simmel theory of fashion.
The genetic construct WAP 6xHisHGH containing the gene encoding human growth hormone (hGH) and WAP promoter expressed in mammary gland of animals was prepared. The 5? end of the gene was modified by the addition of sequence encoding six histidine residues and the sequence recognized by thrombin. In this way, the growth hormone can be easily purified by affinity chromatography and cleaved with thrombin to an active form. In the next step, the genetic construct was introduced by microinjection into male pronuclei of fertilized oocytes. Transgene was detected in male rabbit of F0 generation (number 61). Twelve offspring of founder rabbit of generation F1 indicated transgene sequences. The presence of growth hormone was revealed in the samples of milk accumulated during the lactation of females of F1 generation. The genetic constructs containing chain 1 and chain 2 of Feld1, and the major allergen produced by cat (Fedlis domesticus) were prepared. Both genes were inactivated by introduction into the sequences a positive selectable marker aminoglycoside phosphotransferase (resistant to neomycin). Outside the region of homology to Feld1 chain 1 and chain 2 genes, the negative selectable marker ? thymidine kinase gene was introduced. The genetic constructs pNTKFd1 and pNTKFd2 can be used in further experiments involving the inactivation of Feld1 genes in cat cells. Both genes were modified by site-directed mutagenesis using megastarter with Stop codon for premature termination of translation. The presence of mutation was confirmed by sequencing. The genetic constructs with human hGH gene and cat Feld1 gene were introduced into the bovine and cat fetal fibroblasts respectively in co-transfection with plasmid pGT-N29 containing positive selectable marker by lipofection, precipitation and electroinjection methods. After the selection, surviving cells were subjected to further molecular analysis. The stabile incorporation of the genetic constructs WAP 6xHisHGH and WAPHGH into the genome were observed.
The gene construct WAP(6xHisThr):hGH containing the entire human growth hormone gene (hGH) under the rat whey acidic protein (WAP) promoter regulating the expression in mammary glands of mammals was prepared. The 5? end of the gene was modified by the addition of a sequence encoding six histidine residues and a sequence recognized by thrombin. The gene construct was introduced by microinjection into the male pronucleus of a fertilized oocyte. The founder male rabbit was obtained with the transgene mapping to chromosome 7. The presence of the growth hormone was confirmed in samples of milk collected during the lactation of F1 generation females. The growth hormone can be easily purified by affinity chromatography and cleavage by thrombin to an active form.
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