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

Impact of fixation artifacts and threshold selection on high resolution melting analysis for KRAS mutation screening

2017 ◽  
Vol 35 ◽  
pp. 34-43 ◽  
Author(s):  
Wendy Pérez-Báez ◽  
Ethel A. García-Latorre ◽  
Héctor Aquiles Maldonado-Martínez ◽  
Iris Coronado-Martínez ◽  
Leonardo Flores-García ◽  
...  
Keyword(s):  
High Resolution ◽  
Kras Mutation ◽  
High Resolution Melting ◽  
Mutation Screening ◽  
High Resolution Melting Analysis ◽  
Threshold Selection ◽  
Melting Analysis

scholarly journals Mutation Scanning the GJB1 Gene with High-Resolution Melting Analysis: Implications for Mutation Scanning of Genes for Charcot-Marie-Tooth Disease

2007 ◽  
Vol 53 (2) ◽  
pp. 349-352 ◽  
Author(s):  
Marina L Kennerson ◽  
Trent Warburton ◽  
Eva Nelis ◽  
Megan Brewer ◽  
Patsie Polly ◽  
...  
Keyword(s):  
High Resolution ◽  
High Resolution Melting ◽  
Mutation Screening ◽  
Gene Mutations ◽  
High Resolution Melting Analysis ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Mutation Scanning ◽  
Junction Protein ◽  
Melting Analysis

Abstract Background: X-linked Charcot-Marie-Tooth type 1 disease has been associated with 280 mutations in the GJB1 [gap junction protein, beta 1, 32kDa (connexin 32, Charcot-Marie-Tooth neuropathy, X-linked)] gene. High-resolution melting analysis with an automated instrument can be used to scan DNA for alterations, but its use in X-linked disorders has not been described. Methods: A 96-well LightScanner for high resolution melting analysis was used to scan amplicons of the GJB1 gene. All mutations reported in this study had been confirmed previously by sequence analysis. DNA samples were amplified with the double-stranded DNA-binding dye LC Green Plus. Melting curves were analyzed as fluorescence difference plots. The shift and curve shapes of melting profiles were used to distinguish controls from patient samples. Results: The method detected each of the 23 mutations used in this study. Eighteen known mutations provided validation of the high-resolution melting method and a further 5 mutations were identified in a blind study. Altered fluorescence difference curves for all the mutations were easily distinguished from the wild-type melting profile. Conclusion: High-resolution melting analysis is a simple, sensitive, and cost-efficient alternative method to scan for gene mutations in the GJB1 gene. The technology has the potential to reduce sequencing burden and would be suitable for mutation screening of exons of large multiexon genes that have been discovered to be associated with Charcot Marie Tooth neuropathy.

Sign in / Sign up

Export Citation Format

Share Document