Presentation is loading. Please wait.

Presentation is loading. Please wait.

Complete Screening of 50 Patients with CHARGE Syndrome for Anomalies in the CHD7 Gene Using a Denaturing High-Performance Liquid Chromatography–Based.

Published byΣαπφώ Ελευθεριάδης Modified over 5 years ago

Similar presentations

Presentation on theme: "Complete Screening of 50 Patients with CHARGE Syndrome for Anomalies in the CHD7 Gene Using a Denaturing High-Performance Liquid Chromatography–Based."— Presentation transcript:

1 Complete Screening of 50 Patients with CHARGE Syndrome for Anomalies in the CHD7 Gene Using a Denaturing High-Performance Liquid Chromatography–Based Protocol  Frédéric Bilan, Marine Legendre, Valérie Charraud, Barbara Manière, Dominique Couet, Brigitte Gilbert-Dussardier, Alain Kitzis  The Journal of Molecular Diagnostics  Volume 14, Issue 1, Pages (January 2012) DOI: /j.jmoldx Copyright © 2012 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

2 Figure 1 DHPLC normalized elution profiles of some CHD7 mutations or polymorphisms detected in the present study. A–C and E: One-column temperature was chosen for each exon exhibiting the best resolution of heteroduplex peak for all mutations or polymorphisms detected within this exon. D: Example of DHPLC screening of the two parts of exon 31, where two-column temperatures were necessary to discriminate all detected mutations. The Journal of Molecular Diagnostics  , 46-55DOI: ( /j.jmoldx ) Copyright © 2012 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

3 Figure 2 A: MP/LC chromatograms for the nine multiplex groups scanning CHD7 exon copy number. B: MP/LC group 9 eliciting exon 29 microdeletion. x axis, retention time; y axis, fluorescence intensity. The analyzed exon is indicated by the arrow at the top of its corresponding peaks. Chromatograms with full or half-reduced intensity correspond respectively to the normal control and the analyzed patient. Profiles are superposed and then normalized using the reference amplicon (BRCA1 gene exon 11). The Journal of Molecular Diagnostics  , 46-55DOI: ( /j.jmoldx ) Copyright © 2012 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

4 Figure 3 FISH analysis of the CHD7 locus using the RP11-414L17 BAC probe. Patient 9 (top panel) exhibits only one copy of the CHD7 locus (one purple spot) compared with his mother and father, who exhibit two copies (two red spots on each bottom panels). The Journal of Molecular Diagnostics  , 46-55DOI: ( /j.jmoldx ) Copyright © 2012 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

5 Figure 4 Proposal for a new molecular diagnostic scheme for CS.
The Journal of Molecular Diagnostics  , 46-55DOI: ( /j.jmoldx ) Copyright © 2012 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

Download ppt "Complete Screening of 50 Patients with CHARGE Syndrome for Anomalies in the CHD7 Gene Using a Denaturing High-Performance Liquid Chromatography–Based."

Similar presentations

Measurement of Relative Copy Number of CDKN2A/ARF and CDKN2B in Bladder Cancer by Real-Time Quantitative PCR and Multiplex Ligation-Dependent Probe Amplification.

Measurement of Relative Copy Number of CDKN2A/ARF and CDKN2B in Bladder Cancer by Real-Time Quantitative PCR and Multiplex Ligation-Dependent Probe Amplification.
Design and Multiseries Validation of a Web-Based Gene Expression Assay for Predicting Breast Cancer Recurrence and Patient Survival Ryan K. Van Laar The.

Design and Multiseries Validation of a Web-Based Gene Expression Assay for Predicting Breast Cancer Recurrence and Patient Survival Ryan K. Van Laar The.
Keyur P. Patel, Bedia A. Barkoh, Zhao Chen, Deqin Ma, Neelima Reddy, L

Keyur P. Patel, Bedia A. Barkoh, Zhao Chen, Deqin Ma, Neelima Reddy, L
Detection of Exon 12 Mutations in the JAK2 Gene

Detection of Exon 12 Mutations in the JAK2 Gene
Mutation Screening of EXT1 and EXT2 by Denaturing High-Performance Liquid Chromatography, Direct Sequencing Analysis, Fluorescence in Situ Hybridization,

Mutation Screening of EXT1 and EXT2 by Denaturing High-Performance Liquid Chromatography, Direct Sequencing Analysis, Fluorescence in Situ Hybridization,
Denaturing High-Performance Liquid Chromatography

Denaturing High-Performance Liquid Chromatography
Diagnostic Testing for Rett Syndrome by DHPLC and Direct Sequencing Analysis of the MECP2 Gene: Identification of Several Novel Mutations and Polymorphisms 

Diagnostic Testing for Rett Syndrome by DHPLC and Direct Sequencing Analysis of the MECP2 Gene: Identification of Several Novel Mutations and Polymorphisms 
Development of a Next-Generation Sequencing Method for BRCA Mutation Screening  Maurice Chan, Shen Mo Ji, Zhen Xuan Yeo, Linda Gan, Eric Yap, Yoon Sim.

Development of a Next-Generation Sequencing Method for BRCA Mutation Screening  Maurice Chan, Shen Mo Ji, Zhen Xuan Yeo, Linda Gan, Eric Yap, Yoon Sim.
Statistical Considerations for Immunohistochemistry Panel Development after Gene Expression Profiling of Human Cancers  Rebecca A. Betensky, Catherine.

Statistical Considerations for Immunohistochemistry Panel Development after Gene Expression Profiling of Human Cancers  Rebecca A. Betensky, Catherine.
Laboratory Guidelines for Detection, Interpretation, and Reporting of Maternal Cell Contamination in Prenatal Analyses  Narasimhan Nagan, Nicole E. Faulkner,

Laboratory Guidelines for Detection, Interpretation, and Reporting of Maternal Cell Contamination in Prenatal Analyses  Narasimhan Nagan, Nicole E. Faulkner,
Improving Mutation Screening in Patients with Colorectal Cancer Predisposition Using Next-Generation Sequencing  Jean-Marc Rey, Vincent Ducros, Pascal.

Improving Mutation Screening in Patients with Colorectal Cancer Predisposition Using Next-Generation Sequencing  Jean-Marc Rey, Vincent Ducros, Pascal.
A Multiplex SNaPshot Assay as a Rapid Method for Detecting KRAS and BRAF Mutations in Advanced Colorectal Cancers  Sandrine Magnin, Erika Viel, Alice.

A Multiplex SNaPshot Assay as a Rapid Method for Detecting KRAS and BRAF Mutations in Advanced Colorectal Cancers  Sandrine Magnin, Erika Viel, Alice.
Detection of CALR and MPL Mutations in Low Allelic Burden JAK2 V617F Essential Thrombocythemia  Fabrice Usseglio, Nathalie Beaufils, Anne Calleja, Sophie.

Detection of CALR and MPL Mutations in Low Allelic Burden JAK2 V617F Essential Thrombocythemia  Fabrice Usseglio, Nathalie Beaufils, Anne Calleja, Sophie.
Wanlong Ma, Hagop Kantarjian, Xi Zhang, Chen-Hsiung Yeh, Zhong J

Wanlong Ma, Hagop Kantarjian, Xi Zhang, Chen-Hsiung Yeh, Zhong J
Mutation Screening in Juvenile Polyposis Syndrome

Mutation Screening in Juvenile Polyposis Syndrome
Yanggu Shi, Sharon F. Terry, Patrick F. Terry, Lionel G

Yanggu Shi, Sharon F. Terry, Patrick F. Terry, Lionel G
Joanna Wang, Chetan Bettegowda  The Journal of Molecular Diagnostics 

Joanna Wang, Chetan Bettegowda  The Journal of Molecular Diagnostics 
Detection of Large Pathogenic Expansions in FRDA1, SCA10, and SCA12 Genes Using a Simple Fluorescent Repeat-Primed PCR Assay  Claudia Cagnoli, Chiara.

Detection of Large Pathogenic Expansions in FRDA1, SCA10, and SCA12 Genes Using a Simple Fluorescent Repeat-Primed PCR Assay  Claudia Cagnoli, Chiara.
Characterization of the Different BCR-ABL Transcripts with a Single Multiplex RT-PCR  Jacques Chasseriau, Jérôme Rivet, Frédéric Bilan, Jean-Claude Chomel,

Characterization of the Different BCR-ABL Transcripts with a Single Multiplex RT-PCR  Jacques Chasseriau, Jérôme Rivet, Frédéric Bilan, Jean-Claude Chomel,
Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification.

Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification.

Similar presentations

Ads by Google