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Titolo:
A microsatellite fluorescent method for linkage analysis in familial retinoblastoma and deletion detection at the RBI locus in retinoblastoma and osteosarcoma
Autore:
Alonso, J; Garcia-Miguel, P; Abelairas, J; Mendiola, M; Pestana, A;
Indirizzi:
UAM, CSIC, Inst Invest Biomed,OncoLab, Unidad Biol Mol & Celular Canc, Madrid 28029, Spain UAM Madrid Spain 28029 idad Biol Mol & Celular Canc, Madrid 28029, Spain Hosp Infantil La Paz, Unidad Hemato Oncol Pediat, La Paz, Bolivia Hosp Infantil La Paz La Paz Bolivia emato Oncol Pediat, La Paz, Bolivia Hosp Infantil La Paz, Unidad Oftalmol Pediat, Madrid, Spain Hosp Infantil La Paz Madrid Spain Unidad Oftalmol Pediat, Madrid, Spain
Titolo Testata:
DIAGNOSTIC MOLECULAR PATHOLOGY
fascicolo: 1, volume: 10, anno: 2001,
pagine: 9 - 14
SICI:
1052-9551(200103)10:1<9:AMFMFL>2.0.ZU;2-2
Fonte:
ISI
Lingua:
ENG
Soggetto:
HEREDITARY RETINOBLASTOMA; GENE-MUTATIONS; REPEAT POLYMORPHISMS; MOLECULAR-DETECTION; DNA POLYMORPHISM; LOW-PENETRANCE; HETEROZYGOSITY; EXPRESSION; TECHNOLOGY; DIAGNOSIS;
Keywords:
retinoblastoma; osteosarcoma; genotyping; deletion; microsatellite; fragment analysis;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
38
Recensione:
Indirizzi per estratti:
Indirizzo: Pestana, A UAM, CSIC, Inst Invest Biomed,OncoLab, Unidad Biol Mol & Celular Canc, C Arturo Duperier 4, Madrid 28029, Spain UAM C Arturo Duperier 4 Madrid Spain 28029 Madrid 28029, Spain
Citazione:
J. Alonso et al., "A microsatellite fluorescent method for linkage analysis in familial retinoblastoma and deletion detection at the RBI locus in retinoblastoma and osteosarcoma", DIAGN MOL P, 10(1), 2001, pp. 9-14

Abstract

Linkage analysis at the retinoblastoma locus (RB1) is essential for identifying individuals at risk and to offer adequate genetic counseling in familial retinoblastoma. It can also be used to detect large deletions involvingRE1, which accounts for 15% of the genetic alterations in hereditary retinoblastoma. These studies are usually carried out with lengthy Southern blotanalyses of relatively uninformative restriction fragment length polymorphisms. The authors report an alternative, reliable protocol for genotyping the RE1 locus using two pairs of highly informative intragenic and flanking microsatellites linked closely to the RB1 gene, and analysis of the fluorescent-labeled polymerase chain reaction products with automatic sizing technology. This methodology has successfully identified high risk carriers in five of the five pedigrees of familial retinoblastoma studied. In addition, gross deletions affecting the RB1 gene were identified in two of 12 sporadic bilateral retinoblastomas, and loss of heterozygosity at the RE1 locus has been detected in one of three osteosarcomas using the same experimental protocol. The described protocol is simpler and faster than conventional Southern blot methodologies and can identify a larger number of informative cases.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 31/05/20 alle ore 12:21:26