Pregled bibliografske jedinice broj: 461160
Detailed characterization of small supernumerary marker chromosomes reveals breakpoint hot spots and narrows down the critical regions of clinical impact.
Detailed characterization of small supernumerary marker chromosomes reveals breakpoint hot spots and narrows down the critical regions of clinical impact. // Medizinische Genetik / T. Grimm ; K. Zerres ; B. Horsthemke ; M. Speicher (ur.).
Heidelberg: Springer, 2010. str. 141-141 (poster, međunarodna recenzija, sažetak, znanstveni)
CROSBI ID: 461160 Za ispravke kontaktirajte CROSBI podršku putem web obrasca
Naslov
Detailed characterization of small supernumerary
marker chromosomes reveals breakpoint hot spots and
narrows down the critical regions of clinical impact.
Autori
Weise, A ; Kosyakova, N ; Mrasek, K ; Ewers, E ; Bacino, C ; Patel, A ; Cheung, SW ; Cai, WW ; Senger, G ; Melo, JB ; Carreira, IM ; Dufke, A ; Mehnert, K ; Yardin, C ; Wegner, RD ; Stumm, M ; Kistner, G ; Leipoldt, M ; Thiel, G ; Petersen, MB ; Junge, A ; Fritz, B ; Joksic, G ; Heilbronner, H ; Ujfalusi, A ; Brecevic, L ; Hamid, AB ; Merkas, M ; Liehr, T.
Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni
Izvornik
Medizinische Genetik
/ T. Grimm ; K. Zerres ; B. Horsthemke ; M. Speicher - Heidelberg : Springer, 2010, 141-141
Skup
21st Annual GfH, ÖHG and SGMG Meeting of Human Genetics
Mjesto i datum
Hamburg, Njemačka, 02.03.2010. - 04.03.2010
Vrsta sudjelovanja
Poster
Vrsta recenzije
Međunarodna recenzija
Ključne riječi
Array-comparative genomic hybridization ; aCGH ; small supernumerary marker chromosomes ; sSMC ; microdissection ; breakpoint hot spots
Sažetak
Array-comparative genomic hybridization (aCGH) was done in 64 small supernumerary marker chromosomes (sSMC). The studied sSMC-specific DNA was derived from glass-needle based microdissection, avoiding by that the problem of mosaicism as present in ~40% of corresponding patients. Furthermore, a detailed analysis of overall 128 characterized breakpoints in non-heterochromatic chromosomal regions of sSMC was done. It turned out that 82.8% and 53.1% of the breakpoints are located within copy number variant regions and regions with segmental duplications, respectively. 6.3% of the breakpoints locate within sequence gaps, making an overall of 90.6% of association of non heterochromatic sSMC-related breakpoints with ‘critical genome structure’. Moreover, approximately three quarters of the breakpoints were concordant with fragile sites. Still, there was a 7.0% overlap of the observed breakpoints and interspersed telomeric sequences (ITS), but only two out of 128 breaks were within an olfactory receptor gene family region. Overall, we present the largest ever done aCGH study in sSMC and provide evidence for hotspots involved in sSMC formation. Deduced from that data it was also possible to characterize regions causing clinical problems if present additionally, for all human chromosomes except for chromosomes 6, 13, X and Y.
Izvorni jezik
Engleski
Znanstvena područja
Temeljne medicinske znanosti
Napomena
Prema našim saznanjima prvi rad temeljen na array CGH
tehnologiji u kojem sudjeluju znanstvenici iz Hrvatske
(sa stalnim boravkom u RH).
POVEZANOST RADA
Projekti:
MZOS-108-1081870-1888 - MOLEKULARNA CITOGENETIKA U EVALUACIJI MENTALNE RETARDACIJE NEPOZNATE ETIOLOGIJE (Brečević, Lukrecija, MZOS ) ( CroRIS)
Ustanove:
Medicinski fakultet, Zagreb
Citiraj ovu publikaciju:
Časopis indeksira:
- Web of Science Core Collection (WoSCC)
- Science Citation Index Expanded (SCI-EXP)
- SCI-EXP, SSCI i/ili A&HCI
- Scopus