Comprehensive Arrayed Primer Extension Array for the Detection of 59 Sequence Variants in 15 Conditions Prevalent Among the (Ashkenazi) Jewish Population

Slides:

Advertisements

Similar presentations

Development of a Novel One-Tube Isothermal Reverse Transcription Thermophilic Helicase-Dependent Amplification Platform for Rapid RNA Detection James Goldmeyer,

Advertisements

Design and Multiseries Validation of a Web-Based Gene Expression Assay for Predicting Breast Cancer Recurrence and Patient Survival Ryan K. Van Laar The.

Clinical Laboratory Analysis of Immunoglobulin Heavy Chain Variable Region Genes for Chronic Lymphocytic Leukemia Prognosis Philippe Szankasi, David.

Keyur P. Patel, Bedia A. Barkoh, Zhao Chen, Deqin Ma, Neelima Reddy, L

In Vitro Transcription Amplification and Labeling Methods Contribute to the Variability of Gene Expression Profiling with DNA Microarrays Changqing Ma,

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,

Molecular Diagnostics in Preimplantation Genetic Diagnosis

Rapid Detection of the Epidermal Growth Factor Receptor Mutation in Non-Small-Cell Lung Cancer for Analysis of Acquired Resistance Using Molecular Beacons

Single-Color Digital PCR Provides High-Performance Detection of Cancer Mutations from Circulating DNA Christina Wood-Bouwens, Billy T. Lau, Christine.

Laboratory Guidelines for Detection, Interpretation, and Reporting of Maternal Cell Contamination in Prenatal Analyses Narasimhan Nagan, Nicole E. Faulkner,

The Spectrum of CFTR Variants in Nonwhite Cystic Fibrosis Patients

Suppression of Wild-Type Amplification by Selectivity Enhancing Agents in PCR Assays that Utilize SuperSelective Primers for the Detection of Rare Somatic.

Detection of HIV-1 Minority Variants Containing the K103N Drug-Resistance Mutation Using a Simple Method to Amplify RNA Targets (SMART) Kenneth Morabito,

LightCycler Technology in Molecular Diagnostics

Rapid Genotyping of Single Nucleotide Polymorphisms Influencing Warfarin Drug Response by Surface-Enhanced Laser Desorption and Ionization Time-of-Flight.

High-Fidelity DNA Polymerase Enhances the Sensitivity of a Peptide Nucleic Acid Clamp PCR Assay for K-ras Mutations Bjørnar Gilje, Reino Heikkilä, Satu.

Comparison of High-Resolution Melting Analysis, TaqMan Allelic Discrimination Assay, and Sanger Sequencing for Clopidogrel Efficacy Genotyping in Routine.

Homogeneous Polymerase Chain Reaction Nucleobase Quenching Assay to Detect the 1-kbp Deletion in CLN3 That Causes Batten Disease Paul G. Rothberg, Denia.

Quantitative Measurement of Cell-Free Plasma DNA and Applications for Detecting Tumor Genetic Variation and Promoter Methylation in a Clinical Setting

DNA Diagnostics by Surface-Bound Melt-Curve Reactions

Jeung-Yeal Ahn, Katie Seo, Olga Weinberg, Scott D. Boyd, Daniel A

Detection of an Apparent Homozygous 3120G>A Cystic Fibrosis Mutation on a Routine Carrier Screen Denise LaMarche Heaney, Patrick Flume, Lauren Hamilton,

Shaoyu Zhou, Keyaunoosh Kassauei, David J. Cutler, Giulia C

Rapid Genotyping of Common MeCP2 Mutations with an Electronic DNA Microchip Using Serial Differential Hybridization William A. Thistlethwaite, Linda.

William L. Gerald, M.D., Ph.D, 1954–2008

NADf Chip, a Two-Color Microarray for Simultaneous Screening of Multigene Mutations Associated with Hearing Impairment in North African Mediterranean.

Improved Real-Time Multiplex Polymerase Chain Reaction Detection of Methylenetetrahydrofolate Reductase (MTHFR) 677C>T and 1298A>C Polymorphisms Using.

Multiplex Ligation-Dependent Probe Amplification Versus Multiprobe Fluorescence in Situ Hybridization To Detect Genomic Aberrations in Chronic Lymphocytic.

Clinical Laboratory Analysis of Immunoglobulin Heavy Chain Variable Region Genes for Chronic Lymphocytic Leukemia Prognosis Philippe Szankasi, David.

Detection of Exon 12 Mutations in the JAK2 Gene

Rapid Detection of TEM-Type Extended-Spectrum β-Lactamase (ESBL) Mutations Using Lights-On/Lights-Off Probes with Single-Stranded DNA Amplification Kenneth.

Heteroduplex Formation in SMN Gene Dosage Analysis

Expression of Two Breast-Specific Molecules in the Lung

Screening for Expanded Alleles of the FMR1 Gene in Blood Spots from Newborn Males in a Spanish Population Isabel Fernandez-Carvajal, Paulina Walichiewicz,

Harry R. Hill, Nancy H. Augustine, Robert J. Pryor, Gudrun H

Keyur P. Patel, Bedia A. Barkoh, Zhao Chen, Deqin Ma, Neelima Reddy, L

KRAS Mutation The Journal of Molecular Diagnostics

A Rare Mutation in the Primer Binding Region of the Amelogenin Gene Can Interfere with Gender Identification Bonnie Shadrach, Mairead Commane, Carol.

Genotyping Microarray for the Detection of More Than 200 CFTR Mutations in Ethnically Diverse Populations Iris Schrijver, Eneli Oitmaa, Andres Metspalu,

A Multi-Site Study for Detection of the Factor V (Leiden) Mutation from Genomic DNA Using a Homogeneous Invader Microtiter Plate Fluorescence Resonance.

Iris Schrijver, Tiffanee J. Lenzi, Carol D. Jones, Marla J

The Suitability of Matrix Assisted Laser Desorption/Ionization Time of Flight Mass Spectrometry in a Laboratory Developed Test Using Cystic Fibrosis Carrier.

Molecular Diagnostics in Preimplantation Genetic Diagnosis

Laurent Gouya Journal of Investigative Dermatology

Testing for Maternal Cell Contamination in Prenatal Samples

Rapid One-Step Carrier Detection Assay of Mucolipidosis IV Mutations in the Ashkenazi Jewish Population Feras M. Hantash, Susan C. Olson, Ben Anderson,

Mutation Analysis of SLC26A4 for Pendred Syndrome and Nonsyndromic Hearing Loss by High-Resolution Melting Neng Chen, Lisbeth Tranebjærg, Nanna Dahl.

A Simple Method to Confirm and Size Deletion, Duplication, and Insertion Mutations Detected by Sequence Analysis Lawrence N. Hjelm, Ephrem L.H. Chin,

Detection of Common Disease-Causing Mutations in Mitochondrial DNA (Mitochondrial Encephalomyopathy, Lactic Acidosis with Stroke-Like Episodes MTTL

Design and Evaluation of a Real-Time PCR Assay for Quantification of JAK2 V617F and Wild-Type JAK2 Transcript Levels in the Clinical Laboratory Jason.

Detection of the JAK2 V617F Mutation by LightCycler PCR and Probe Dissociation Analysis Marla Lay, Rajan Mariappan, Jason Gotlib, Lisa Dietz, Siby Sebastian,

Ye Bang-Ce, Chu Xiaohe, Fan Ye, Li Songyang, Yin Bincheng, Zuo Peng

Simultaneous Amplification, Detection, and Analysis of Common Mutations in the Galactose-1-Phosphate Uridyl Transferase Gene Mohamed Jama, Lesa Nelson,

A Simple and Rapid Genotyping Assay for Simultaneous Detection of Two ADRB2 Allelic Variants Using Fluorescence Resonance Energy Transfer Probes and Melting.

Rapid and Sensitive Real-Time Polymerase Chain Reaction Method for Detection and Quantification of 3243A>G Mitochondrial Point Mutation Rinki Singh,

Validation of High-Resolution DNA Melting Analysis for Mutation Scanning of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Gene Marie-Pierre.

Amplification Refractory Mutation System, a Highly Sensitive and Simple Polymerase Chain Reaction Assay, for the Detection of JAK2 V617F Mutation in Chronic.

Multiplex PCR Detection of GSTM1, GSTT1, and GSTP1 Gene Variants

Feras M. Hantash, Arlene Rebuyon, Mei Peng, Joy B

A Rapid and Reliable Test for BRCA1 and BRCA2 Founder Mutation Analysis in Paraffin Tissue Using Pyrosequencing Liying Zhang, Tomas Kirchhoff, Cindy.

A Real-Time PCR Assay for the Simultaneous Detection of Functional N284I and L412F Polymorphisms in the Human Toll-Like Receptor 3 Gene Robert A. Brown,

A Novel and Rapid Method of Determining the Effect of Unclassified MLH1 Genetic Variants on Differential Allelic Expression Sheron Perera, Brian Li,

Triplet Repeat Primed PCR (TP PCR) in Molecular Diagnostic Testing for Friedreich Ataxia Paola Ciotti, Emilio Di Maria, Emilia Bellone, Franco Ajmar,

Karen Snow-Bailey, Ph.D., 1961–2006

Kathleen M. Murphy, Tanya Geiger, Michael J. Hafez, James R

Jie Hu, Malini Sathanoori, Sally J. Kochmar, Urvashi Surti

Detection of BRCA1 and BRCA2 Ashkenazi Jewish Founder Mutations in Formalin- Fixed Paraffin-Embedded Tissues Using Conventional PCR and Heteroduplex/Amplicon.

Monique A. Johnson, Marvin J. Yoshitomi, C. Sue Richards

In Vitro Transcription Amplification and Labeling Methods Contribute to the Variability of Gene Expression Profiling with DNA Microarrays Changqing Ma,

Presentation transcript:

Comprehensive Arrayed Primer Extension Array for the Detection of 59 Sequence Variants in 15 Conditions Prevalent Among the (Ashkenazi) Jewish Population Iris Schrijver, Maigi Külm, Phyllis I. Gardner, Eugene P. Pergament, Morris B. Fiddler The Journal of Molecular Diagnostics Volume 9, Issue 2, Pages 228-236 (April 2007) DOI: 10.2353/jmoldx.2007.060100 Copyright © 2007 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 1 APEX analysis for sequence variant 2281del6ins7 (735delATCTGAinsTAGATTC) in the BLM gene. Each numbered row represents the analysis of an individual patient sample. The row presents two sets of four-channel fluorescent images representing the bases adenine (A), cytosine (C), guanine (G), and thymine (T), respectively, for the sense strand (top) and anti-sense strand (bottom). The histograms to the right of the fluorescent images are of the fluorescent intensities of the four channels at the mutation analysis site (from left to right: A, C, G, and T). The letters to the right of the histogram represent the base(s) identified on each strand. Row 1 contains the results of heterozygous target DNA from an individual with genotype WT/2281del6ins7. In this case, the sense strand is extended by both the WT base A and base T, complementary for the mutation. The oligo that interrogates the mutation from the opposite direction demonstrates presence of a T (WT) and a G, the expected signal in a mutation carrier. This illustrates the separate primers used for deletions/insertions. Row 2 contains the results of normal DNA (WT/WT), in which the sense strand is extended by the WT base A and the anti-sense strand is extended by the WT base T. Row 3 is a negative control. The Journal of Molecular Diagnostics 2007 9, 228-236DOI: (10.2353/jmoldx.2007.060100) Copyright © 2007 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 2 APEX analysis for sequence variant R696P in the IKBKAP gene. The results are presented as described in Figure 1. Row 1 contains the results of normal DNA (WT/WT), in which the sense strand is extended by the WT base G and the anti-sense strand is extended by the WT base C. Row 2 contains the results of heterozygous target DNA from a carrier (WT/R696P). In this case, the sense strand is extended by the WT base G and base C complementary for the mutation. The anti-sense strand is extended by WT base C and base G, complementary for the mutation. Row 3 is a negative control. The Journal of Molecular Diagnostics 2007 9, 228-236DOI: (10.2353/jmoldx.2007.060100) Copyright © 2007 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions