scholarly journals Pendred syndrome and DFNB4-mutation screening ofSLC26A4by denaturing high-performance liquid chromatography and the identification of eleven novel mutations

2003 ◽  
Vol 124A (1) ◽  
pp. 1-9 ◽  
Author(s):  
Sai Prasad ◽  
Karen A. Kölln ◽  
Robert A. Cucci ◽  
Richard C. Trembath ◽  
Guy Van Camp ◽  
...  
Keyword(s):  
High Performance Liquid Chromatography ◽  
Liquid Chromatography ◽  
High Performance ◽  
Mutation Screening ◽  
Pendred Syndrome ◽  
Novel Mutations

scholarly journals NF2 Mutation Screening by Denaturing High-Performance Liquid Chromatography and High-Resolution Melting Analysis

2008 ◽  
Vol 12 (2) ◽  
pp. 311-318 ◽  
Author(s):  
Roberta Sestini ◽  
Aldesia Provenzano ◽  
Costanza Bacci ◽  
Claudio Orlando ◽  
Maurizio Genuardi ◽  
...  
Keyword(s):  
High Performance Liquid Chromatography ◽  
Liquid Chromatography ◽  
High Resolution ◽  
High Performance ◽  
High Resolution Melting ◽  
Mutation Screening ◽  
High Resolution Melting Analysis ◽  
Melting Analysis

scholarly journals Denaturing High-Performance Liquid Chromatography Detection of Ribosomal Mutations Conferring Macrolide Resistance in Gram-Positive Cocci

2004 ◽  
Vol 48 (1) ◽  
pp. 297-304 ◽  
Author(s):  
Annie Canu ◽  
Ahmed Abbas ◽  
Brigitte Malbruny ◽  
François Sichel ◽  
Roland Leclercq
Keyword(s):  
High Performance Liquid Chromatography ◽  
Liquid Chromatography ◽  
High Performance ◽  
Mutation Screening ◽  
Screening Method ◽  
Macrolide Resistance ◽  
23S Rrna ◽  
Gram Positive ◽  
Automated Method ◽  
Gram Positive Cocci

ABSTRACT Mutations in genes coding for L4 (rplD) or L22 (rplV) ribosomal proteins or in 23S rRNA (rrl gene) are reported as a cause of macrolide resistance in streptococci and staphylococci. This study was aimed at evaluating a denaturing high-performance liquid chromatography (DHPLC) technique as a rapid mutation screening method. Portions of these genes were amplified by PCR from total DNA of 48 strains of Streptococcus pneumoniae (n = 22), Staphylococcus aureus (n = 16), Streptococcus pyogenes (n = 6), Streptococcus oralis (n = 2), and group G streptococcus (n = 2). Thirty-seven of these strains were resistant to macrolides and harbored one or several mutations in one or two of the target genes, and 11 were susceptible. PCR products were analyzed by DHPLC. All mutations were detected, except a point mutation in a pneumococcal rplD gene. The method detected one mutated rrl copy out of six in S. aureus. This automated method is promising for screening of mutations involved in macrolide resistance in gram-positive cocci.

Mutation screening of the mitochondrial genome using denaturing high-performance liquid chromatography

2005 ◽  
Vol 84 (1) ◽  
pp. 61-74 ◽  
Author(s):  
Andrew Biggin ◽  
Robert Henke ◽  
Bruce Bennetts ◽  
David R. Thorburn ◽  
John Christodoulou
Keyword(s):  
High Performance Liquid Chromatography ◽  
Liquid Chromatography ◽  
Mitochondrial Genome ◽  
High Performance ◽  
Mutation Screening
Sign in / Sign up

Export Citation Format

Share Document