We designed a targeted-array called GOLD (Gain or Loss Detection) Chip consisting of 900 FISH-mapped non-overlapping BAC clones spanning the whole genome to enhance the coverage of 66 unique human genomic regions involved in well known microdeletion/microduplication syndromes. The array has a 10 Mb backbone to guarantee the detection of the aneuploidies, and has an implemented resolution for telomeres, and for regions involved in common genomic diseases. In order to evaluate clinical diagnostic applicability of GOLDChip, analytical validity was carried-out via retrospective analysis of DNA isolated from a series of cytogenetically normal amniocytes and cytogenetically abnormal DNA obtained from cultured amniocytes, peripheral blood and/or cell lines. We recruited 47 DNA samples corresponding to pathologies with significant frequencies (Cri du Chat syndrome, Williams syndrome, Prader Willi/Angelman syndromes, Smith-Magenis syndrome, DiGeorge syndrome, Miller-Dieker syndrome, chromosomes 13, 18 and 21 trisomies). We set up an experimental protocol that allowed to identify chromosomal rearrangements in all the DNA samples analyzed. Our results provide evidence that our targeted BAC array can be used for the identification of the most common microdeletion syndromes and common aneuploidies.

Gambardella, S., Ciabattoni, E., Motta, F., Stoico, G., Gullotta, F., Biancolella, M., et al. (2010). Design, construction and validation of targeted BAC array-based CGH test for detecting the most commons chromosomal abnormalities. GENOMICS INSIGHTS, 3(1), 9-21 [10.4137/GEI.S3683].

Design, construction and validation of targeted BAC array-based CGH test for detecting the most commons chromosomal abnormalities

GAMBARDELLA, STEFANO;GULLOTTA, FRANCESCA;BIANCOLELLA, MICHELA;BERNARDINI, LORENA;NOVELLI, GIUSEPPE
2010

Abstract

We designed a targeted-array called GOLD (Gain or Loss Detection) Chip consisting of 900 FISH-mapped non-overlapping BAC clones spanning the whole genome to enhance the coverage of 66 unique human genomic regions involved in well known microdeletion/microduplication syndromes. The array has a 10 Mb backbone to guarantee the detection of the aneuploidies, and has an implemented resolution for telomeres, and for regions involved in common genomic diseases. In order to evaluate clinical diagnostic applicability of GOLDChip, analytical validity was carried-out via retrospective analysis of DNA isolated from a series of cytogenetically normal amniocytes and cytogenetically abnormal DNA obtained from cultured amniocytes, peripheral blood and/or cell lines. We recruited 47 DNA samples corresponding to pathologies with significant frequencies (Cri du Chat syndrome, Williams syndrome, Prader Willi/Angelman syndromes, Smith-Magenis syndrome, DiGeorge syndrome, Miller-Dieker syndrome, chromosomes 13, 18 and 21 trisomies). We set up an experimental protocol that allowed to identify chromosomal rearrangements in all the DNA samples analyzed. Our results provide evidence that our targeted BAC array can be used for the identification of the most common microdeletion syndromes and common aneuploidies.
Pubblicato
Rilevanza internazionale
Articolo
Esperti anonimi
Settore MED/03 - Genetica Medica
eng
BAC clones; aCGH; aneuploidies; microdeletions; microduplications; targeted array
Gambardella, S., Ciabattoni, E., Motta, F., Stoico, G., Gullotta, F., Biancolella, M., et al. (2010). Design, construction and validation of targeted BAC array-based CGH test for detecting the most commons chromosomal abnormalities. GENOMICS INSIGHTS, 3(1), 9-21 [10.4137/GEI.S3683].
Gambardella, S; Ciabattoni, E; Motta, F; Stoico, G; Gullotta, F; Biancolella, M; Nardone, A; Novelli, A; Brunetti, E; Bernardini, L; Novelli, G
Articolo su rivista
File in questo prodotto:
File Dimensione Formato  
Gambardella S. 2010.pdf

non disponibili

Licenza: Copyright dell'editore
Dimensione 8.48 MB
Formato Adobe PDF
8.48 MB Adobe PDF   Visualizza/Apri   Richiedi una copia

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2108/169119
Citazioni
  • ???jsp.display-item.citation.pmc??? 0
  • Scopus 0
  • ???jsp.display-item.citation.isi??? ND
social impact