Abstract
| Lingua originale | English |
|---|---|
| pagine (da-a) | 173-178 |
| Numero di pagine | 6 |
| Rivista | Annals of Oncology |
| Volume | 18 Suppl 6 |
| Stato di pubblicazione | Published - 2007 |
All Science Journal Classification (ASJC) codes
- Hematology
- Oncology
Cita questo
Analysis of extended genomic rearrangements in oncological research. / Russo, Antonio; De Lellis; Curia; Toracchio; Mariani-Costantini, Renato; Cama; Colucci; Aceto.
In: Annals of Oncology, Vol. 18 Suppl 6, 2007, pag. 173-178.Risultato della ricerca: Article
}
TY - JOUR
T1 - Analysis of extended genomic rearrangements in oncological research.
AU - Russo, Antonio
AU - De Lellis, null
AU - Curia, null
AU - Toracchio, null
AU - Mariani-Costantini, Renato
AU - Cama, null
AU - Colucci, null
AU - Aceto, null
PY - 2007
Y1 - 2007
N2 - Screening for genomic rearrangements is a fundamental task in the genetic diagnosis of many inherited disorders including cancer-predisposing syndromes. Several methods were developed for analysis of structural genomic abnormalities, some are targeted to the analysis of one or few specific loci, others are designed to scan the whole genome. Locus-specific methods are used when the candidate loci responsible for the specific pathological condition are known. Whole-genome methods are used to discover loci bearing structural abnormalities when the disease-associated locus is unknown. Three main approaches have been employed for the analysis of locus-specific structural changes. The first two are based on probe hybridization and include cytogenetics and DNA blotting. The third approach is based on PCR amplification and includes microsatellite or single nucleotide polymorphism (SNP) genotyping, relative allele quantitation, real-time quantitative PCR, long PCR and multiplex PCR-based methods such as multiplex ligation-dependent probe amplification and the recently developed nonfluorescent multiplex PCR coupled to high-performance liquid chromatography analysis. Whole-genome methods include cytogenetic methods, array-comparative genomic hybridization, SNP array and other sequence-based methods. The goal of the present review is to provide an overview of the main features and advantages and limitations of methods for the screening of structural genomic abnormalities relevant to oncological research.
AB - Screening for genomic rearrangements is a fundamental task in the genetic diagnosis of many inherited disorders including cancer-predisposing syndromes. Several methods were developed for analysis of structural genomic abnormalities, some are targeted to the analysis of one or few specific loci, others are designed to scan the whole genome. Locus-specific methods are used when the candidate loci responsible for the specific pathological condition are known. Whole-genome methods are used to discover loci bearing structural abnormalities when the disease-associated locus is unknown. Three main approaches have been employed for the analysis of locus-specific structural changes. The first two are based on probe hybridization and include cytogenetics and DNA blotting. The third approach is based on PCR amplification and includes microsatellite or single nucleotide polymorphism (SNP) genotyping, relative allele quantitation, real-time quantitative PCR, long PCR and multiplex PCR-based methods such as multiplex ligation-dependent probe amplification and the recently developed nonfluorescent multiplex PCR coupled to high-performance liquid chromatography analysis. Whole-genome methods include cytogenetic methods, array-comparative genomic hybridization, SNP array and other sequence-based methods. The goal of the present review is to provide an overview of the main features and advantages and limitations of methods for the screening of structural genomic abnormalities relevant to oncological research.
UR - http://hdl.handle.net/10447/24860
M3 - Article
VL - 18 Suppl 6
SP - 173
EP - 178
JO - Annals of Oncology
JF - Annals of Oncology
SN - 0923-7534
ER -