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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.


Weise, A; Kosyakova, N; Mrasek, K; Ewers, E; Bacino, C; Patel, A; Cheung, SW; Cai, WW; Senger, G; Melo, JB et al.
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

Profili:

Avatar Url Martina Rinčić (autor)

Avatar Url Franjo Fritz (autor)


Citiraj ovu publikaciju:

Weise, A; Kosyakova, N; Mrasek, K; Ewers, E; Bacino, C; Patel, A; Cheung, SW; Cai, WW; Senger, G; Melo, JB et al.
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)
Weise, A., Kosyakova, N., Mrasek, K., Ewers, E., Bacino, C., Patel, A., Cheung, S., Cai, W., Senger, G. & Melo, J. (2010) Detailed characterization of small supernumerary marker chromosomes reveals breakpoint hot spots and narrows down the critical regions of clinical impact.. U: T. Grimm, K. Zerres, B. Horsthemke & M. Speicher (ur.)Medizinische Genetik.
@article{article, author = {Weise, A and Kosyakova, N and Mrasek, K and Ewers, E and Bacino, C and Patel, A and Cheung, SW and Cai, WW and Senger, G and Melo, JB and Carreira, IM and Dufke, A and Mehnert, K and Yardin, C and Wegner, RD and Stumm, M and Kistner, G and Leipoldt, M and Thiel, G and Petersen, MB and Junge, A and Fritz, B and Joksic, G and Heilbronner, H and Ujfalusi, A and Brecevic, L and Hamid, AB and Merkas, M and Liehr, T.}, year = {2010}, pages = {141-141}, keywords = {Array-comparative genomic hybridization, aCGH, small supernumerary marker chromosomes, sSMC, microdissection, breakpoint hot spots}, title = {Detailed characterization of small supernumerary marker chromosomes reveals breakpoint hot spots and narrows down the critical regions of clinical impact.}, keyword = {Array-comparative genomic hybridization, aCGH, small supernumerary marker chromosomes, sSMC, microdissection, breakpoint hot spots}, publisher = {Springer}, publisherplace = {Hamburg, Njema\v{c}ka} }
@article{article, author = {Weise, A and Kosyakova, N and Mrasek, K and Ewers, E and Bacino, C and Patel, A and Cheung, SW and Cai, WW and Senger, G and Melo, JB and Carreira, IM and Dufke, A and Mehnert, K and Yardin, C and Wegner, RD and Stumm, M and Kistner, G and Leipoldt, M and Thiel, G and Petersen, MB and Junge, A and Fritz, B and Joksic, G and Heilbronner, H and Ujfalusi, A and Brecevic, L and Hamid, AB and Merkas, M and Liehr, T.}, year = {2010}, pages = {141-141}, keywords = {Array-comparative genomic hybridization, aCGH, small supernumerary marker chromosomes, sSMC, microdissection, breakpoint hot spots}, title = {Detailed characterization of small supernumerary marker chromosomes reveals breakpoint hot spots and narrows down the critical regions of clinical impact.}, keyword = {Array-comparative genomic hybridization, aCGH, small supernumerary marker chromosomes, sSMC, microdissection, breakpoint hot spots}, publisher = {Springer}, publisherplace = {Hamburg, Njema\v{c}ka} }

Časopis indeksira:


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





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