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Pregled bibliografske jedinice broj: 677828

Heteromorphic variants of chromosome 9


Kosyakova, N.; ...; Merkaš, Martina; Brečević, Lukrecija; ...; Ergul, E.
Heteromorphic variants of chromosome 9 // Molecular cytogenetics, 6 (2013), 14-1 doi:10.1186/1755-8166-6-14 (međunarodna recenzija, članak, znanstveni)


CROSBI ID: 677828 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
Heteromorphic variants of chromosome 9

Autori
Kosyakova, N. ; ... ; Merkaš, Martina ; Brečević, Lukrecija ; ... ; Ergul, E.

Izvornik
Molecular cytogenetics (1755-8166) 6 (2013); 14-1

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
Chromosome 9; heteromorphism; breakpoints; Western Europe; Eastern Europe

Sažetak
Heterochromatic variants of pericentromere of chromosome 9 are reported and discussed since decades concerning their detailed structure and clinical meaning. However, detailed studies are scarce. Thus, here we provide the largest ever done molecular cytogenetic research based on >300 chromosome 9 heteromorphism carriers. In this study, 334 carriers of heterochromatic variants of chromosome 9 were included, being 192 patients from Western Europe and the remainder from Easter-European origin. A 3-color-fluorescence in situ hybridization (FISH) probe-set directed against for 9p12 to 9q13~21.1 (9het-mix) and 8 different locus-specific probes were applied for their characterization. The 9het-mix enables the characterization of 21 of the yet known 24 chromosome 9 heteromorphic patterns. In this study, 17 different variants were detected including five yet unreported ; the most frequent were pericentric inversions (49.4%) followed by 9qh-variants (23.9%), variants of 9ph(11.4%), cenh (8.2%), and dicentric- (3.8%) and duplication-variants (3.3%). For reasons of simplicity, a new short nomenclature for the yet reported 24 heteromorphic patterns of chromosome 9 is suggested. Six breakpoints involved in four of the 24 variants could be narrowed down using locus-specific probes. Based on this largest study ever done in carriers of chromosome 9 heteromorphisms, three of the 24 detailed variants were more frequently observed in Western than in Eastern Europe. Besides, there is no clear evidence that infertility is linked to any of the 24 chromosome 9 heteromorphic variants.

Izvorni jezik
Engleski

Znanstvena područja
Biologija, Temeljne medicinske znanosti



POVEZANOST RADA


Projekti:
108-1081870-1888 - MOLEKULARNA CITOGENETIKA U EVALUACIJI MENTALNE RETARDACIJE NEPOZNATE ETIOLOGIJE (Brečević, Lukrecija, MZOS ) ( CroRIS)

Ustanove:
Medicinski fakultet, Zagreb

Profili:

Avatar Url Lukrecija Brečević (autor)

Avatar Url Martina Rinčić (autor)

Poveznice na cjeloviti tekst rada:

doi link.springer.com

Citiraj ovu publikaciju:

Kosyakova, N.; ...; Merkaš, Martina; Brečević, Lukrecija; ...; Ergul, E.
Heteromorphic variants of chromosome 9 // Molecular cytogenetics, 6 (2013), 14-1 doi:10.1186/1755-8166-6-14 (međunarodna recenzija, članak, znanstveni)
Kosyakova, N., ..., Merkaš, M., Brečević, L., ... & Ergul, E. (2013) Heteromorphic variants of chromosome 9. Molecular cytogenetics, 6, 14-1 doi:10.1186/1755-8166-6-14.
@article{article, author = {Kosyakova, N. and Merka\v{s}, Martina and Bre\v{c}evi\'{c}, Lukrecija and Ergul, E.}, year = {2013}, pages = {14-1-14-11}, DOI = {10.1186/1755-8166-6-14}, keywords = {Chromosome 9, heteromorphism, breakpoints, Western Europe, Eastern Europe}, journal = {Molecular cytogenetics}, doi = {10.1186/1755-8166-6-14}, volume = {6}, issn = {1755-8166}, title = {Heteromorphic variants of chromosome 9}, keyword = {Chromosome 9, heteromorphism, breakpoints, Western Europe, Eastern Europe} }
@article{article, author = {Kosyakova, N. and Merka\v{s}, Martina and Bre\v{c}evi\'{c}, Lukrecija and Ergul, E.}, year = {2013}, pages = {14-1-14-11}, DOI = {10.1186/1755-8166-6-14}, keywords = {Chromosome 9, heteromorphism, breakpoints, Western Europe, Eastern Europe}, journal = {Molecular cytogenetics}, doi = {10.1186/1755-8166-6-14}, volume = {6}, issn = {1755-8166}, title = {Heteromorphic variants of chromosome 9}, keyword = {Chromosome 9, heteromorphism, breakpoints, Western Europe, Eastern Europe} }

Časopis indeksira:


  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus


Citati:





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