Literature DB >> 10674036

Rapid detection of the factor V Leiden (1691 G > A) and haemochromatosis (845 G > A) mutation by fluorescence resonance energy transfer (FRET) and real time PCR.

S H Neoh1, M J Brisco, F A Firgaira, K J Trainor, D R Turner, A A Morley.   

Abstract

A rapid method based on fluorescence resonance energy transfer (FRET) and real time polymerase chain reaction (PCR) was used to identify the haemochromatosis genotype in 112 individuals and the factor V genotype in 134 individuals. The results were compared with conventional methods based on restriction enzyme digestion of PCR products. The two methods agreed in 244 of the 246 individuals; for the other two individuals, sequencing showed that they had been incorrectly genotyped by the standard method but correctly genotyped by FRET. The simplicity, speed, and accuracy of real time PCR analysis using FRET probes make it the method of choice in the clinical laboratory for genotyping the haemochromatosis and factor V genes.

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Year:  1999        PMID： 10674036      PMCID： PMC501573          DOI： 10.1136/jcp.52.10.766

Source DB:  PubMed          Journal:  J Clin Pathol        ISSN： 0021-9746            Impact factor:   3.411


  9 in total

1.  A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis.

Authors:  J N Feder; A Gnirke; W Thomas; Z Tsuchihashi; D A Ruddy; A Basava; F Dormishian; R Domingo; M C Ellis; A Fullan; L M Hinton; N L Jones; B E Kimmel; G S Kronmal; P Lauer; V K Lee; D B Loeb; F A Mapa; E McClelland; N C Meyer; G A Mintier; N Moeller; T Moore; E Morikang; C E Prass; L Quintana; S M Starnes; R C Schatzman; K J Brunke; D T Drayna; N J Risch; B R Bacon; R K Wolff
Journal:  Nat Genet       Date:  1996-08       Impact factor: 38.330

2.  Real-time fluorescence genotyping of factor V Leiden during rapid-cycle PCR.

Authors:  M J Lay; C T Wittwer
Journal:  Clin Chem       Date:  1997-12       Impact factor: 8.327

3.  Haemochromatosis and HLA-H.

Authors:  A M Jouanolle; G Gandon; P Jézéquel; M Blayau; M L Campion; J Yaouanq; J Mosser; P Fergelot; B Chauvel; P Bouric; G Carn; N Andrieux; I Gicquel; J Y Le Gall; V David
Journal:  Nat Genet       Date:  1996-11       Impact factor: 38.330

4.  The LightCycler: a microvolume multisample fluorimeter with rapid temperature control.

Authors:  C T Wittwer; K M Ririe; R V Andrew; D A David; R A Gundry; U J Balis
Journal:  Biotechniques       Date:  1997-01       Impact factor: 1.993

5.  Linkage between inherited resistance to activated protein C and factor V gene mutation in venous thrombosis.

Authors:  B Zöller; B Dahlbäck
Journal:  Lancet       Date:  1994-06-18       Impact factor: 79.321

6.  Rapid two-stage PCR for detecting factor V G1691A mutation.

Authors:  N J Beauchamp; M E Daly; P C Cooper; F E Preston; I R Peake
Journal:  Lancet       Date:  1994-09-03       Impact factor: 79.321

7.  Mutation in blood coagulation factor V associated with resistance to activated protein C.

Authors:  R M Bertina; B P Koeleman; T Koster; F R Rosendaal; R J Dirven; H de Ronde; P A van der Velden; P H Reitsma
Journal:  Nature       Date:  1994-05-05       Impact factor: 49.962

8.  Detection of the hereditary hemochromatosis gene mutation by real-time fluorescence polymerase chain reaction and peptide nucleic acid clamping.

Authors:  E M Kyger; M D Krevolin; M J Powell
Journal:  Anal Biochem       Date:  1998-07-01       Impact factor: 3.365

9.  Homogeneous multiplex genotyping of hemochromatosis mutations with fluorescent hybridization probes.

Authors:  P S Bernard; R S Ajioka; J P Kushner; C T Wittwer
Journal:  Am J Pathol       Date:  1998-10       Impact factor: 4.307
  9 in total
  4 in total

Review 1.  DNA probes using fluorescence resonance energy transfer (FRET): designs and applications.

Authors:  V V Didenko
Journal:  Biotechniques       Date:  2001-11       Impact factor: 1.993

2.  Evaluation of temperature gradient capillary electrophoresis for detection of the Factor V Leiden mutation: coincident identification of a novel polymorphism in Factor V.

Authors:  Kathleen Murphy; Michael Hafez; Juliet Philips; Kellie Yarnell; Kevin Gutshall; Karin Berg
Journal:  Mol Diagn       Date:  2003

3.  Staphylococcus aureus genotyping using novel real-time PCR formats.

Authors:  Flavia Huygens; John Inman-Bamber; Graeme R Nimmo; Wendy Munckhof; Jacqueline Schooneveldt; Bruce Harrison; Jennifer A McMahon; Philip M Giffard
Journal:  J Clin Microbiol       Date:  2006-10       Impact factor: 5.948

4.  Real-time PCR genotyping using displacing probes.

Authors:  Jinping Cheng; Yongyou Zhang; Qingge Li
Journal:  Nucleic Acids Res       Date:  2004-04-15       Impact factor: 16.971
  4 in total

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