Literature DB >> 25696406

Methods in molecular cardiology: DHPLC mutation detection analysis.

R J E Jongbloed, H Smeets, P A Doevendans, A van den Wijngaard.   

Abstract

An increasing number of mutations have been identified in genes involved in cardiac disorders which has led to novel insights in the pathophysiology of inherited cardiac diseases. As a result of these findings, techniques specialised in automated high-throughput analysis are implemented to handle the increasing number of diagnostic genetic requests. Denaturing high-performance liquid chromatography (DHPLC) is one such novel technique that fulfils the criteria of speed, sensitivity and accuracy. This issue focuses on the basic principle of the technique and illustrates how genetic alterations can be identified.

Entities:  

Keywords:  molecular cardiology; mutation detection analysis

Year:  2005        PMID: 25696406      PMCID: PMC2497274     

Source DB:  PubMed          Journal:  Neth Heart J        ISSN: 1568-5888            Impact factor:   2.380


  9 in total

1.  Optimal temperature selection for mutation detection by denaturing HPLC and comparison to single-stranded conformation polymorphism and heteroduplex analysis.

Authors:  A C Jones; J Austin; N Hansen; B Hoogendoorn; P J Oefner; J P Cheadle; M C O'Donovan
Journal:  Clin Chem       Date:  1999-08       Impact factor: 8.327

2.  Improved efficiency of mutation detection by denaturing high-performance liquid chromatography using modified primers and hybridization procedure.

Authors:  G Narayanaswami; P D Taylor
Journal:  Genet Test       Date:  2001

3.  Blind analysis of denaturing high-performance liquid chromatography as a tool for mutation detection.

Authors:  M C O'Donovan; P J Oefner; S C Roberts; J Austin; B Hoogendoorn; C Guy; G Speight; M Upadhyaya; S S Sommer; P McGuffin
Journal:  Genomics       Date:  1998-08-15       Impact factor: 5.736

4.  Identification of a gene responsible for familial Wolff-Parkinson-White syndrome.

Authors:  M H Gollob; M S Green; A S Tang; T Gollob; A Karibe; A S Ali Hassan ; F Ahmad; R Lozado; G Shah; L Fananapazir; L L Bachinski; R Roberts; A S Hassan
Journal:  N Engl J Med       Date:  2001-06-14       Impact factor: 91.245

5.  A pre-Columbian Y chromosome-specific transition and its implications for human evolutionary history.

Authors:  P A Underhill; L Jin; R Zemans; P J Oefner; L L Cavalli-Sforza
Journal:  Proc Natl Acad Sci U S A       Date:  1996-01-09       Impact factor: 11.205

6.  Sudden death due to troponin T mutations.

Authors:  J C Moolman; V A Corfield; B Posen; K Ngumbela; C Seidman; P A Brink; H Watkins
Journal:  J Am Coll Cardiol       Date:  1997-03-01       Impact factor: 24.094

7.  A new mutation of the cardiac troponin T gene causing familial hypertrophic cardiomyopathy without left ventricular hypertrophy.

Authors:  A Varnava; C Baboonian; F Davison; L de Cruz; P M Elliott; M J Davies; W J McKenna
Journal:  Heart       Date:  1999-11       Impact factor: 5.994

8.  The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands.

Authors:  Marielle Alders; Roselie Jongbloed; Wout Deelen; Arthur van den Wijngaard; Pieter Doevendans; Folkert Ten Cate; Vera Regitz-Zagrosek; Hans Peter Vosberg; Irene van Langen; Arthur Wilde; Dennis Dooijes; Marcel Mannens
Journal:  Eur Heart J       Date:  2003-10       Impact factor: 29.983

9.  Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy.

Authors:  H Watkins; W J McKenna; L Thierfelder; H J Suk; R Anan; A O'Donoghue; P Spirito; A Matsumori; C S Moravec; J G Seidman
Journal:  N Engl J Med       Date:  1995-04-20       Impact factor: 91.245

  9 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.