657del5 mutation of the NBS1 gene in myelodysplastic syndrome
| Autor: | Andrija Bogdanovic, Vera Bunjevacki, Momcilo Ristanovic, Ljiljana Lukovic, Nela Maksimovic, Ivana Novakovic, Suzana Cvjeticanin, Biljana Jekic, Tatjana Damnjanovic |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2014 |
| Předmět: |
Biology
General Biochemistry Genetics and Molecular Biology 03 medical and health sciences 0302 clinical medicine hemic and lymphatic diseases medicine MDS Nbs1 gene lcsh:QH301-705.5 030304 developmental biology Genetics 0303 health sciences Myelodysplastic syndromes DNA Damage Repair medicine.disease 3. Good health Nibrin 657del5 lcsh:Biology (General) Mutation (genetic algorithm) NBS1 mutations Cancer research Stem cell nibrin General Agricultural and Biological Sciences 030217 neurology & neurosurgery |
| Zdroj: | Archives of Biological Sciences, Vol 66, Iss 3, Pp 1055-1059 (2014) |
| ISSN: | 1821-4339 0354-4664 |
| Popis: | Myelodysplastic syndromes (MDS) are clonal hematologic stem cell disorders with an as yet unknown molecular pathology. Genetic instability has been proposed as a cause of MDS. Mutations in the NBS1 gene, whose product nibrin (p95) is involved in DNA damage repair and cell-cycle control, might be associated with an elevated predisposition to the development of MDS. The aim of the study was to examine truncating 5 bp deletion (657del5), the most frequent NBS1 gene mutation in Slavic populations, in MDS patients. Among 71 MDS patients, we found one case that was heterozygous for the NBS1 657del5 mutation. To the best of our knowledge, this is the first report of a NBS1 mutation in MDS. [Projekat Ministarstva nauke Republike Srbije, br. 175091] |
| Databáze: | OpenAIRE |
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