Presentation is loading. Please wait.

Presentation is loading. Please wait.

Detection of Large Pathogenic Expansions in FRDA1, SCA10, and SCA12 Genes Using a Simple Fluorescent Repeat-Primed PCR Assay  Claudia Cagnoli, Chiara.

Published byFelix Todd Modified over 6 years ago

Similar presentations

Presentation on theme: "Detection of Large Pathogenic Expansions in FRDA1, SCA10, and SCA12 Genes Using a Simple Fluorescent Repeat-Primed PCR Assay  Claudia Cagnoli, Chiara."— Presentation transcript:

1 Detection of Large Pathogenic Expansions in FRDA1, SCA10, and SCA12 Genes Using a Simple Fluorescent Repeat-Primed PCR Assay  Claudia Cagnoli, Chiara Michielotto, Tohru Matsuura, Tetsuo Ashizawa, Russell L. Margolis, Susan E. Holmes, Cinzia Gellera, Nicola Migone, Alfredo Brusco  The Journal of Molecular Diagnostics  Volume 6, Issue 2, Pages (May 2004) DOI: /S (10) Copyright © 2004 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

2 Figure 1 Fluorescent repeat-primed PCR analysis of the Friedreich ataxia locus. The peak profiles of healthy controls with two alleles in the normal size range (panels 1 and 2) are distinct from the profiles found in subjects with one (Hz carrier, panel 3) or two pathogenic alleles (FA patients, panels 4 and 5). The genotype of FRDA1 GAA triplets is shown inside each panel. Marker peaks of 250, 300, 340, and 350 bp are shadowed. Size in bp is also reported on abscissa, while ordinate shows an arbitrary fluorescence intensity scale. The hyphened arrow marks the right tail shape of the peak traces. The Journal of Molecular Diagnostics 2004 6, DOI: ( /S (10) ) Copyright © 2004 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

3 Figure 2 Measurement of the slope of the peaks profile. Height (F.U.) and size (bp) of repeat-primed PCR peaks can be plotted to calculated a regression line and an R2 coefficient (see Materials and Methods). A control subject and a patient corresponding to panels 2 and 5 in Figure 1 are displayed as example. The R2 values were always able to discriminate a carrier of one or two expansions versus a normal control (see Table 2). The Journal of Molecular Diagnostics 2004 6, DOI: ( /S (10) ) Copyright © 2004 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

4 Figure 3 Fluorescent repeat-primed PCR analysis in the SCA10 (left) and SCA12 (right) loci. Top panels show healthy control subjects, while bottom panels display patients carrying one expanded allele. The genotype at the two loci expressed in number of repeats is reported inside each panel. Marker peaks of 139, 150, 160, 200, 250, 300, 340, and 350 bp are shadowed. Size in bp is also reported on abscissa, while ordinate shows an arbitrary fluorescence intensity scale. The Journal of Molecular Diagnostics 2004 6, DOI: ( /S (10) ) Copyright © 2004 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Download ppt "Detection of Large Pathogenic Expansions in FRDA1, SCA10, and SCA12 Genes Using a Simple Fluorescent Repeat-Primed PCR Assay  Claudia Cagnoli, Chiara."

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.
CyclinD1/CyclinD3 Ratio by Real-Time PCR Improves Specificity for the Diagnosis of Mantle Cell Lymphoma Carol D. Jones, Katherine H. Darnell, Roger A.

CyclinD1/CyclinD3 Ratio by Real-Time PCR Improves Specificity for the Diagnosis of Mantle Cell Lymphoma Carol D. Jones, Katherine H. Darnell, Roger A.
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.
An Enhanced Polymerase Chain Reaction Assay to Detect Pre- and Full Mutation Alleles of the Fragile X Mental Retardation 1 Gene  Alessandro Saluto, Alessandro.

An Enhanced Polymerase Chain Reaction Assay to Detect Pre- and Full Mutation Alleles of the Fragile X Mental Retardation 1 Gene  Alessandro Saluto, Alessandro.
EGFR Mutations in Lung Adenocarcinomas

EGFR Mutations in Lung Adenocarcinomas
Large Pathogenic Expansions in the SCA2 and SCA7 Genes Can Be Detected by Fluorescent Repeat-Primed Polymerase Chain Reaction Assay  Claudia Cagnoli,

Large Pathogenic Expansions in the SCA2 and SCA7 Genes Can Be Detected by Fluorescent Repeat-Primed Polymerase Chain Reaction Assay  Claudia Cagnoli,
Triplet Repeat Primed PCR Simplifies Testing for Huntington Disease

Triplet Repeat Primed PCR Simplifies Testing for Huntington Disease
Detection of Exon 12 Mutations in the JAK2 Gene

Detection of Exon 12 Mutations in the JAK2 Gene
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.
Simultaneous Genotyping of α-Thalassemia Deletional and Nondeletional Mutations by Real-Time PCR–Based Multicolor Melting Curve Analysis  Qiuying Huang,

Simultaneous Genotyping of α-Thalassemia Deletional and Nondeletional Mutations by Real-Time PCR–Based Multicolor Melting Curve Analysis  Qiuying Huang,
Validation of a Commercially Available Screening Tool for the Rapid Identification of CGG Trinucleotide Repeat Expansions in FMR1  Grace X.Y. Lim, Yu.

Validation of a Commercially Available Screening Tool for the Rapid Identification of CGG Trinucleotide Repeat Expansions in FMR1  Grace X.Y. Lim, Yu.
RT-PCR Analysis of RNA Extracted from Bouin-Fixed and Paraffin-Embedded Lymphoid Tissues  Annunziata Gloghini, Barbara Canal, Ulf Klein, Luigino Dal Maso,

RT-PCR Analysis of RNA Extracted from Bouin-Fixed and Paraffin-Embedded Lymphoid Tissues  Annunziata Gloghini, Barbara Canal, Ulf Klein, Luigino Dal Maso,
A Rapid Polymerase Chain Reaction-Based Screening Method for Identification of All Expanded Alleles of the Fragile X (FMR1) Gene in Newborn and High-Risk.

A Rapid Polymerase Chain Reaction-Based Screening Method for Identification of All Expanded Alleles of the Fragile X (FMR1) Gene in Newborn and High-Risk.
Molecular Genetics of Pediatric Soft Tissue Tumors

Molecular Genetics of Pediatric Soft Tissue Tumors
Multiplex Preamplification of Serum DNA to Facilitate Reliable Detection of Extremely Rare Cancer Mutations in Circulating DNA by Digital PCR  Jennifer.

Multiplex Preamplification of Serum DNA to Facilitate Reliable Detection of Extremely Rare Cancer Mutations in Circulating DNA by Digital PCR  Jennifer.
Design and Feasibility of a Novel, Rapid, and Simple Fluorescence 26-Plex RT-PCR Assay for Simultaneous Detection of 24 Fusion Transcripts in Adult Acute.

Design and Feasibility of a Novel, Rapid, and Simple Fluorescence 26-Plex RT-PCR Assay for Simultaneous Detection of 24 Fusion Transcripts in Adult Acute.
Expansion of an FMR1 Grey-Zone Allele to a Full Mutation in Two Generations  Isabel Fernandez-Carvajal, Blanca Lopez Posadas, Ruiqin Pan, Christopher Raske,

Expansion of an FMR1 Grey-Zone Allele to a Full Mutation in Two Generations  Isabel Fernandez-Carvajal, Blanca Lopez Posadas, Ruiqin Pan, Christopher Raske,
Establishment and Study of Different Real-Time Polymerase Chain Reaction Assays for the Quantification of Cells with Deletions of Chromosome 7  Elia Mattarucchi,

Establishment and Study of Different Real-Time Polymerase Chain Reaction Assays for the Quantification of Cells with Deletions of Chromosome 7  Elia Mattarucchi,
Loss of Heterozygosity Studies Revisited

Loss of Heterozygosity Studies Revisited
Triplet Repeat Primed PCR Simplifies Testing for Huntington Disease

Triplet Repeat Primed PCR Simplifies Testing for Huntington Disease

Similar presentations

Ads by Google