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Titolo:
Comparison of heteroduplex analysis, direct sequencing, and enzyme mismatch cleavage for detecting mutations in a large gene, FBN1
Autore:
Yuan, B; Thomas, JP; von Kodolitsch, Y; Pyeritz, RE;
Indirizzi:
MCP Hahnemann Sch Med, Dept Human Genet, Pittsburgh, PA USA MCP Hahnemann Sch Med Pittsburgh PA USA Human Genet, Pittsburgh, PA USA
Titolo Testata:
HUMAN MUTATION
fascicolo: 5, volume: 14, anno: 1999,
pagine: 440 - 446
SICI:
1059-7794(1999)14:5<440:COHADS>2.0.ZU;2-N
Fonte:
ISI
Lingua:
ENG
Soggetto:
NEONATAL MARFAN-SYNDROME; LONG-QT SYNDROME; EGF-LIKE DOMAINS; HYPERTROPHIC CARDIOMYOPATHY; DIAGNOSTIC-CRITERIA; POINT MUTATIONS; PCR-SSCP;
Keywords:
fibrillin-1; FBN1; p53; TP53; Marfan syndrome; clinical molecular genetics;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
36
Recensione:
Indirizzi per estratti:
Indirizzo: Pyeritz, RE Allegheny Gen Hosp, Ctr Med Genet, 320 E North Ave, Pittsburgh, PA 15212 USA Allegheny Gen Hosp 320 E North Ave Pittsburgh PA USA 15212 USA
Citazione:
B. Yuan et al., "Comparison of heteroduplex analysis, direct sequencing, and enzyme mismatch cleavage for detecting mutations in a large gene, FBN1", HUM MUTAT, 14(5), 1999, pp. 440-446

Abstract

Analysis of large genes for mutations of clinical relevance is complicatedby intragenic heterogeneity, sensitivity, and cost of the methods available, and in the case of many conditions, specificity of the generic alterations detected. We examined the FBN1 gene for mutations in people who had Marfan syndrome using three methods: single-chain polymorphism analysis (SSCP) with heteroduplex (HA) analysis, enzyme-mediated cleavage (EMC) of heteroduplexes, and direct sequencing. We also used these methods to search for mutations in the P53 gene in patients with hepatocellular carcinoma. The results showed that EMC was most efficient for detecting mutations, However, thecost favored SSCP with heteroduplex analysis, provided conditions did not need to be optimized to detect a mutation. Until more cost-effective and sensitive methods are developed to detect unknown mutations in large genes, diagnosis of many genetic disorders will depend on the willingness of an investigator who is studying a particular disorder to perform clinical molecular testing and have the laborarory accredited. Hum Mutat: 14:440-446, 1999. (C) 1999 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 25/09/20 alle ore 16:50:08