Национальный цифровой ресурс Руконт - межотраслевая электронная библиотека (ЭБС) на базе технологии Контекстум (всего произведений: 634699)
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Российский вестник перинатологии и педиатрии  / №4 2016

CONSTITUTIONAL GENOME AND CHROMOSOME INSTABILITIES IN THE AUTISTIC BRAIN (50,00 руб.)

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Первый авторIourov
АвторыVorsanova S.G., Liehr T., Zelenova M.A., Kurinnaia O.S., Vasin K.S., Kolotii A.D., Korostelev S.A., Yurov Y.B.
Страниц2
ID562218
АннотацияIntroduction. Chromosome and genome instabilities confined to the human brain are associated with neurological and psychiatric diseases. However, the autistic brain has not been studied in context of genomic copy number variations. Here, we have evaluated copy number variations (CNV) and chromosomal rearrangements in the autistic brain
CONSTITUTIONAL GENOME AND CHROMOSOME INSTABILITIES IN THE AUTISTIC BRAIN / I.Y. Iourov [и др.] // Российский вестник перинатологии и педиатрии .— 2016 .— №4 .— С. 183-184 .— URL: https://rucont.ru/efd/562218 (дата обращения: 24.04.2024)

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Reciprocal reading by long-distance inverse PCR also disclosed KMT2A fusions with PITPNA in one patient, with LOC100132273 in another patient, and with DNA sequences not compatible with any gene in three patients. <...> The most common KMT2A breakpoint region was intron/exon 9 (3/8 patients), followed by intron/exon 11 and 10. <...> We conclude that the combination of molecular techniques used in this study can efficiently identify KMT2A fusion partners in complex pediatric acute leukemia karyotypes. <...> COMPARATIVE ANALYSIS OF INDIVIDUAL CHROMOSOME INVOLVEMENT IN MICRONUCLEI INDUCED BY MITOMYCIN C AND BLEOMYCIN IN HUMAN LEUKOCYTES Hovhannisyan G.1 Harutyunyan T.1 , Aroutiounian R.1 , Liehr T.3 , Babayan N.1,2 1Department of Genetics and Cytology, Faculty of Biology, Yerevan State University, Yerevan, Armenia; 2 Institute of Molecular Biology, National Academy of Sciences, Yerevan, Armenia; 3 Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Jena, Germany Micronucleus (MN) assay is a well standardized approach for evaluation of clastogenic/aneugenic effects of mutagens. <...> Fluorescence in situ hybridization (FISH) is successfully used to characterize the chromosomal content of MN. <...> However, the relationships between nuclear positioning, length, and gene density of individual chromosomes and their involvement in MN induced by different mutagens have not been clearly defined. <...> Chromosomal content of MN was characterized in human leukocytes treated with mitomycin C (MMC) and bleomycin (BLM) by FISH using centromeric (cep) and whole-chromosome painting (wcp) probes. <...> Involvement of chromosomes 8, 15 and 20 in MMC-induced and chromosomes 1, 9 and 16 in BLM-induced MN was studied, and correlated with chromosome size, gene density and interphase position. <...> The results obtained were analyzed together with previous own data on the frequencies of inclusion of chromosomes 3, 4, 6, 7, 9, 16, 17, 18, and X in MMC-induced MN. <...> Involvement of whole chromosomes 8, 15 and 20 in MMC-induced MN negatively correlated with gene density; however, analysis together with earlier studied chromosomes did not confirm this correlation. <...> Inclusion of chromosomes 8, 15 and 20 in MMCinduced MN does not depend <...>