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

MOLECULAR CHARACTERIZATION OF  KMT2A FUSION PARTNER GENES IN  13 CASES OF  PEDIATRIC LEUKEMIA WITH  COMPLEX OR CRYPTIC KARYOTYPES (50,00 руб.)

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Первый авторGarcia
АвторыOthman M.A., Abdelhay E., Meyer C., Marschalek R., Land M.G., Liehr T., Ribeiro R.C., Silva M.L.
Страниц2
ID562216
АннотацияIn pediatric acute leukemias, reciprocal chromosomal translocations frequently cause gene fusions involving the lysine (K)-specific methyltransferase 2A gene (KMT2A, also known as MLL). Specific KMT2A fusion partners are associated with the disease phenotype (lymphoblastic vs. myeloid), and the type of KMT2A rearrangement also has prognostic implications. However, the KMT2A partner gene cannot always be identified by banding karyotyping. We sought to identify such partner genes in 13 cases of childhood leukemia with uninformative karyotypes by combining molecular techniques, including multicolor banding FISH, reverse-transcriptase PCR, and long-distance inverse PCR.
MOLECULAR CHARACTERIZATION OF  KMT2A FUSION PARTNER GENES IN  13 CASES OF  PEDIATRIC LEUKEMIA WITH  COMPLEX OR CRYPTIC KARYOTYPES / D.R. Garcia [и др.] // Российский вестник перинатологии и педиатрии .— 2016 .— №4 .— С. 182-183 .— URL: https://rucont.ru/efd/562216 (дата обращения: 25.04.2024)

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ИННОВАЦИОННЫЕ ТЕХНОЛОГИИ В ПЕДИАТРИИ И ДЕТСКОЙ ХИРУРГИИ Silva M. L. M.4 , de Jesus Marques-Salles T.1 Pediatric Oncohematology Center, Hospital Oswaldo Cruz/ Pos Graduation Course of the Faculty of Medical 1 Sciences, University of Pernambuco, Recife/PE, Brazil; 2 Biologic Sciences Institute, Pernambuco University, Recife/PE, Brazil; 3 Jena, Germany; 4 Jena University Hospital, Institute of Human Genetics, Cytogenetic Department, National Center for Bone Marrow Transplant (CEMO-INCA), National Cancer Institute, Rio de Janeiro/RJ, Brazil Fanconi Anemia (FA) is an inherited disorder with congenital and developmental abnormalities, bone marrow failure and an extreme risk to develop myelodysplastic syndrome or acute myeloid leukemia. <...> Here, we characterized bone marrow features and implications of chromosomal aberrations in four cases of FA. <...> The molecular karyotyping revealed different acquired abnormalities in three of the four cases, e.g. a high complex and rare karyotype. <...> A fourth patient was also included as an asymptomatic carrier with duplication of chromosome 1. <...> Due to the appearance of rare and complex chromosomal abnormalities, molecular cytogenetics studies are important to determine the real significance of chromosomal aberrations in malignancies derived from FA. <...> ALPHA-FETOPROTEIN AND ITS VALUE FOR PREDICTING PREGNANCY OUTCOMES — A RE-EVALUATION Darouich A. A.1 Kiehntopf M.3 , Liehr T.1 , Weise A.1 , Schreyer I.1,4 1Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Jena, Germany; 2 Germany; 3 Jena University Hospital, Friedrich Schiller University, Placenta-Labor, Department of Obstetrics, Jena, Jena University Hospital, Friedrich Schiller University, Institute of Clinical Chemistry and Laboratory Diagnostics, Jena, Germany; 4 Jena University Hospital, Zentrum fьr ambulante Medizin, Jena, Germany A retrospective study based on 3,119 singleton and 56 twin pregnancies is presented. <...> The standard levels of amnion fluid derived alpha-fetoprotein level (AF-AFP) between 12th and 36th week of gestation were determined. <...> Additionally, acetylcholinesterase (AChE) test results for 63 cases, ultrasonography results for 32 cases and abnormal karyotypic <...>