Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
Two rare confounding polymorphisms proximal to the factor V Leiden mutation
Autore:
Gold, B; Hanson, M; Dean, M;
Indirizzi:
NCI, Human Genet Sect, Lab Genom Divers, Frederick, MD 21702 USA NCI Frederick MD USA 21702 ect, Lab Genom Divers, Frederick, MD 21702 USA Quest Diagnost, Van Nuys, CA USA Quest Diagnost Van Nuys CA USAQuest Diagnost, Van Nuys, CA USA
Titolo Testata:
MOLECULAR DIAGNOSIS
fascicolo: 2, volume: 6, anno: 2001,
pagine: 137 - 140
SICI:
1084-8592(200106)6:2<137:TRCPPT>2.0.ZU;2-L
Fonte:
ISI
Lingua:
ENG
Soggetto:
COAGULATION-FACTOR-V; VENOUS THROMBOSIS; RISK; PCR;
Keywords:
PCR-RFLP; PCR; variant;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
9
Recensione:
Indirizzi per estratti:
Indirizzo: Gold, B NCI, Human Genet Sect, Lab Genom Divers, Frederick, MD 21702 USA NCI Frederick MD USA 21702 Genom Divers, Frederick, MD 21702 USA
Citazione:
B. Gold et al., "Two rare confounding polymorphisms proximal to the factor V Leiden mutation", MOL DIAGN, 6(2), 2001, pp. 137-140

Abstract

Background: Comprehensive assessment of thrombophilia risk includes characterization of the R506Q (Leiden) mutation in factor V in many patients. Although activated protein C resistance is often assessed by means of a coagulation test, molecular interrogation of the G1691A mutation provides confirmation and interpretive utility in patients undergoing anticoagulation. Manymolecular methods are available to provide genotyping at this locus. Amongthese, PCR-restriction fragment length polymorphism (RFLP) is widely used. Unfortunately, because this common mutation is 11 bp from the 3 ' end of exon 10, one PCR primer often anneals within intron 10. As a consequence, polymorphism can confound test results. Methods and Results: In the course of a clinical diagnostic test of 15,301patients, two samples repeatedly showed two different unusual electrophoretic mobilities after PCR and restriction enzyme digestion. After stripping patient identifiers and entering a research protocol, the amplicons from these DNAs were sequenced in parallel with normal and heterozygous G1691A control genomic DNA samples. This sequencing showed two novel polymorphisms, each mapping to intron 10. Conclusion: PCR-RFLP-based methods rely on sequence conservation in the interrogated region. Amplification of mutated loci adjacent to introns present a special risk for confounding restriction patterns. Sequencing ampliconswith reproducibly unusual restriction patterns resolved the paradoxical restriction pattern in this case.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 07/04/20 alle ore 22:33:34