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

Slides:

Advertisements

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.

Advertisements

Nine Novel Germline Gene Variants in the RET Proto-Oncogene Identified in Twelve Unrelated Cases Syed A. Ahmed, Karen Snow-Bailey, W. Edward Highsmith,

A Multiplex qPCR Gene Dosage Assay for Rapid Genotyping and Large-Scale Population Screening for Deletional α-Thalassemia Wanjun Zhou, Ge Wang, Xuefeng.

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

Telomerase Activity and Expression of Telomerase RNA Component and Telomerase Catalytic Subunit Gene in Cervical Cancer Kenji Nakano, Elizabeth Watney,

One Hundred Twenty-One Dystrophin Point Mutations Detected from Stored DNA Samples by Combinatorial Denaturing High-Performance Liquid Chromatography Annalaura.

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.

Accurate Molecular Characterization of Formalin-Fixed, Paraffin-Embedded Tissues by microRNA Expression Profiling Anna E. Szafranska, Timothy S. Davison,

An Allele-Specific RT-PCR Assay to Detect Type A Mutation of the Nucleophosmin-1 Gene in Acute Myeloid Leukemia Tiziana Ottone, Emanuele Ammatuna, Serena.

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

EGFR Mutations in Lung Adenocarcinomas

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,

Rapid Molecular Analysis of the STAT3 Gene in Job Syndrome of Hyper-IgE and Recurrent Infectious Diseases Attila Kumánovics, Carl T. Wittwer, Robert.

Assessment of Target Enrichment Platforms Using Massively Parallel Sequencing for the Mutation Detection for Congenital Muscular Dystrophy C. Alexander.

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

A Pseudo-Full Mutation Identified in Fragile X Assay Reveals a Novel Base Change Abolishing an EcoRI Restriction Site Shujian Liang, Harold N. Bass,

Kirby Siemering, Shehnaaz S. M. Manji, Wendy M

Expansion of an FMR1 Grey-Zone Allele to a Full Mutation in Two Generations Isabel Fernandez-Carvajal, Blanca Lopez Posadas, Ruiqin Pan, Christopher Raske,

Wanlong Ma, Hagop Kantarjian, Xi Zhang, Chen-Hsiung Yeh, Zhong J

Mutation Screening in Juvenile Polyposis Syndrome

Yanggu Shi, Sharon F. Terry, Patrick F. Terry, Lionel G

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

Rapid Real-Time PCR Assays for Detection of Klebsiella pneumoniae with the rmpA or magA Genes Associated with the Hypermucoviscosity Phenotype Laurie.

Influenza A Subtyping The Journal of Molecular Diagnostics

High Resolution Melting Analysis for JAK2 Exon 14 and Exon 12 Mutations Inmaculada Rapado, Silvia Grande, Enriqueta Albizua, Rosa Ayala, José-Angel Hernández,

Patrick R. Murray The Journal of Molecular Diagnostics

Kathryn B. Garber, Lisa M. Vincent, John J. Alexander, Lora J. H

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

Rapid Diagnosis of α-Thalassemia by Melting Curve Analysis

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.

The Human Androgen Receptor X-Chromosome Inactivation Assay for Clonality Diagnostics of Natural Killer Cell Proliferations Michaël Boudewijns, Jacques.

Detection of Exon 12 Mutations in the JAK2 Gene

Genotyping of Frequent BRCA1/2 SNPs with Unlabeled Probes

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

Analysis of Rare APC Variants at the mRNA Level

Comparison of KRAS Mutation Analysis and FISH for Detecting Pancreatobiliary Tract Cancer in Cytology Specimens Collected During Endoscopic Retrograde.

BRAF Mutation Testing in Solid Tumors

A Synonymous Mutation in the CFTR Gene Causes Aberrant Splicing in an Italian Patient Affected by a Mild Form of Cystic Fibrosis Valeria Faa′, Alessandra.

Development of a Quantitative Real-Time Polymerase Chain Reaction Assay for the Detection of the JAK2 V617F Mutation Elizabeth C. Wolstencroft, Katy.

The Molecular Pathology of Primary Immunodeficiencies

Report of New Haplotype for ABCC2 Gene

WGA Allows the Molecular Characterization of a Novel Large CFTR Rearrangement in a Black South African Cystic Fibrosis Patient Marie des Georges, Caroline.

Syed Hussain Askree, Lawrence N

Detection and Discrimination between Deletional and Non-Deletional Prader-Willi and Angelman Syndromes by Methylation-Specific PCR and Quantitative Melting.

EGFR Mutations in Lung Adenocarcinomas

A Rapid, Sensitive Assay to Detect EGFR Mutation in Small Biopsy Specimens from Lung Cancer Yasushi Yatabe, Toyoaki Hida, Yoshitsugu Horio, Takayuki.

Rapid and Reliable Detection of Glucose-6-Phosphate Dehydrogenase (G6PD) Gene Mutations in Han Chinese Using High-Resolution Melting Analysis Jing-bin.

Genomic Technologies and the New Era of Genomic Medicine

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

Multiple Sequence Variants in Hereditary Hemorrhagic Telangiectasia Cases Jamie McDonald, Friederike Gedge, Allene Burdette, James Carlisle, Changkuoth.

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

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

Cecily P. Vaughn, Elaine Lyon, Wade S. Samowitz

Rapid Polymerase Chain Reaction-Based Detection of Epidermal Growth Factor Receptor Gene Mutations in Lung Adenocarcinomas Qiulu Pan, William Pao, Marc.

A New Insertion/Deletion of the Cystic Fibrosis Transmembrane Conductance Regulator Gene Accounts for 3.4% of Cystic Fibrosis Mutations in Sardinia: Implications.

Improved Detection of KIT Exon 11 Duplications in Formalin-Fixed, Paraffin-Embedded Gastrointestinal Stromal Tumors Jerzy Lasota, Bartosz Wasag, Sonja.

Statistical Treatment of Fluorescence in Situ Hybridization Validation Data to Generate Normal Reference Ranges Using Excel Functions Allison L. Ciolino,

Use of Pyrosequencing of 16S rRNA Fragments to Differentiate between Bacteria Responsible for Neonatal Sepsis Jeanne A. Jordan, Allyson R. Butchko, Mary.

Karen Snow-Bailey, Ph.D., 1961–2006

Custom Design of a GeXP Multiplexed Assay Used to Assess Expression Profiles of Inflammatory Gene Targets in Normal Colon, Polyp, and Tumor Tissue Janice.

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

Characterization of a Recurrent Novel Large Duplication in the Cystic Fibrosis Transmembrane Conductance Regulator Gene Feras M. Hantash, Joy B. Redman,

Multiplex Ligation-Dependent Probe Amplification Identification of Whole Exon and Single Nucleotide Deletions in the CFTR Gene of Hispanic Individuals.

Angiotensin I-Converting Enzyme

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

Lung Adenocarcinoma Harboring Mutations in the ERBB2 Kinase Domain

Presentation transcript:

A Simple Method to Confirm and Size Deletion, Duplication, and Insertion Mutations Detected by Sequence Analysis Lawrence N. Hjelm, Ephrem L.H. Chin, Madhuri R. Hegde, Bradford W. Coffee, Lora J.H. Bean The Journal of Molecular Diagnostics Volume 12, Issue 5, Pages 607-610 (September 2010) DOI: 10.2353/jmoldx.2010.100011 Copyright © 2010 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 1 Fragment analysis of individuals with deletions in the (A) DBT gene (proband, mother and father; normal fragment is 458 bp), (B) GJB2 gene (proband and normal control; normal fragment is 637 bp), and (C) SMPD1 gene (individuals with five (582-bp) and six (588-bp) CTGGCG repeats and six and seven (594-bp) repeats). The Journal of Molecular Diagnostics 2010 12, 607-610DOI: (10.2353/jmoldx.2010.100011) Copyright © 2010 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions