Comprehensive Detection of Genomic Duplications and Deletions in the DMD Gene, by Use of Multiplex Amplifiable Probe Hybridization Stefan White, Margot.

Slides:

Advertisements

Similar presentations

Investigating the use of Multiple Displacement Amplification (MDA) to amplify nanogram quantities of DNA to use for downstream mutation screening by sequencing.

Advertisements

1 Muscular dystrophy Dr. Derakhshandeh. 2 Muscular dystrophy (MD) a group of rare inherited muscle diseases muscle fibers are unusually susceptible to.

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

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

Simultaneous Genotyping of α-Thalassemia Deletional and Nondeletional Mutations by Real-Time PCR–Based Multicolor Melting Curve Analysis Qiuying Huang,

Todd S. Laughlin, Michael W. Becker, Jane L. Liesveld, Deborah A

Genotyping of Chimerical BCR-ABL1 RNA in Chronic Myeloid Leukemia by Integrated DNA Chip Jong-Hun Kang, Hyun-Gyung Goh, Sang-Ho Chae, Sung-Yong Kim,

by Martin de Boer, Egbert Bakker, Stefaan Van Lierde, and Dirk Roos

LightCycler Technology in Molecular Diagnostics

Isothermal Multiple Displacement Amplification

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

Modification of the triplet repeat primed polymerase chain reaction method for detection of the CTG repeat expansion in myotonic dystrophy type 1: application.

Philippe Szankasi, Mohamed Jama, David W. Bahler

Molecular Diagnosis of Autosomal Dominant Polycystic Kidney Disease Using Next- Generation Sequencing Adrian Y. Tan, Alber Michaeel, Genyan Liu, Olivier.

Multiplex Ligation-Dependent Probe Amplification

A Comprehensive Strategy for Accurate Mutation Detection of the Highly Homologous PMS2 Jianli Li, Hongzheng Dai, Yanming Feng, Jia Tang, Stella Chen,

Quantitative Analysis of Survival Motor Neuron Copies: Identification of Subtle SMN1 Mutations in Patients with Spinal Muscular Atrophy, Genotype-Phenotype.

Quantitative Analyses of SMN1 and SMN2 Based on Real-Time LightCycler PCR: Fast and Highly Reliable Carrier Testing and Prediction of Severity of Spinal.

Simultaneous Genotyping of α-Thalassemia Deletional and Nondeletional Mutations by Real-Time PCR–Based Multicolor Melting Curve Analysis Qiuying Huang,

Thomas W. Prior, Scott J. Bridgeman

A Novel Alu-Like Element Rearranged in the Dystrophin Gene Causes a Splicing Mutation in a Family with X-Linked Dilated Cardiomyopathy Alessandra Ferlini,

Identification of Recombinant Alleles Using Quantitative Real-Time PCR

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

Multiple Mutations ofMYO1A, a Cochlear-Expressed Gene, in Sensorineural Hearing Loss Francesca Donaudy, Antonella Ferrara, Laura Esposito, Ronna Hertzano,

Sensitive Detection of Deletions of One or More Exons in the Neurofibromatosis Type 2 (NF2) Gene by Multiplexed Gene Dosage Polymerase Chain Reaction

DNA-Based Diagnosis of Xeroderma Pigmentosum Group C by Whole-Genome Scan Using Single-Nucleotide Polymorphism Microarray Ching-Wan Lam, Kitty Kit-Ting.

Analysis of Rare APC Variants at the mRNA Level

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

Susan M. Farrington, Juili Lin-Goerke, Jessica Ling, Yute Wang, John D

Comparative Mutation Detection Screening of the Type VII Collagen Gene (COL7A1) Using the Protein Truncation Test, Fluorescent Chemical Cleavage of Mismatch,

Comprehensive Mutation Analysis of the CYP21A2 Gene

Survival of Male Patients with Incontinentia Pigmenti Carrying a Lethal Mutation Can Be Explained by Somatic Mosaicism or Klinefelter Syndrome The.

Laurent Gouya Journal of Investigative Dermatology

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

Larissa V. Furtado, Helmut C. Weigelin, Kojo S. J

Kathleen M. Murphy, Julie S. Cohen, Amy Goodrich, Patricia P

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

A Novel Methylation PCR that Offers Standardized Determination of FMR1 Methylation and CGG Repeat Length without Southern Blot Analysis Marina Grasso,

Lisa Edelmann, Jianli Dong, Robert J. Desnick, Ruth Kornreich

Processed Pseudogene Confounding Deletion/Duplication Assays for SMAD4

A Mutation in the Variable Repeat Region of the Aggrecan Gene (AGC1) Causes a Form of Spondyloepiphyseal Dysplasia Associated with Severe, Premature.

Ming-Tseh Lin, Li-Hui Tseng, Roy G. Rich, Michael J

E.J. Hollox, J.A.L. Armour, J.C.K. Barber

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

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

Meiotic Microdeletion Breakpoints in the BRCA1 Gene Are Significantly Associated with Symmetric DNA-Sequence Elements Beatrice Schmucker, Michael Krawczak

Assessing the Functional Characteristics of Synonymous and Nonsynonymous Mutation Candidates by Use of Large DNA Constructs A.M. Eeds, D. Mortlock, R.

Wook Lew Journal of Investigative Dermatology

Annemieke Aartsma-Rus, Anneke A. M. Janson, Wendy E

The Gene Mutated in Variant Late-Infantile Neuronal Ceroid Lipofuscinosis (CLN6) and in nclf Mutant Mice Encodes a Novel Predicted Transmembrane Protein

Spectrum of Mutations in the RPGR Gene That Are Identified in 20% of Families with X- Linked Retinitis Pigmentosa Monika Buraczynska, Weiping Wu, Ricardo.

Anthony M. Raizis, Martin M. Ferguson, David T. Nicholls, Derek W

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.

HPV Genotype Detection Using Hybrid Capture Sample Preparation Combined with Whole Genome Amplification and Multiplex Detection with Luminex XMAP Brian.

Bart A. Jessen, Marjorie A. Phillips, Robert H. Rice

Exon Array CGH: Detection of Copy-Number Changes at the Resolution of Individual Exons in the Human Genome Pawandeep Dhami, Alison J. Coffey, Stephen.

C. E. Browne, N. R. Dennis, E. Maher, F. L. Long, J. C. Nicholson, J

Combined use of multiplex ligation-dependent probe amplification and automatic sequencing for identification of KAL1 defects in patients with Kallmann.

Kit-Sing Au, Adelaide A. Hebert, E. Steve Roach, Hope Northrup

Quantitative Analysis of Survival Motor Neuron Copies: Identification of Subtle SMN1 Mutations in Patients with Spinal Muscular Atrophy, Genotype-Phenotype.

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

Gene copy number analysis by multiplexed quantitative differential PCR for BRCA1 and BRCA2 for 23 DNA specimens obtained from patients of Hispanic ancestry.

Exon Skipping in IVD RNA Processing in Isovaleric Acidemia Caused by Point Mutations in the Coding Region of the IVD Gene Jerry Vockley, Peter K. Rogan,

Identification of a New Splice Form of the EDA1 Gene Permits Detection of Nearly All X- Linked Hypohidrotic Ectodermal Dysplasia Mutations Alex W. Monreal,

Quantification of bcl-2/JH Fusion Sequences and a Control Gene by Multiplex Real- Time PCR Coupled with Automated Amplicon Sizing by Capillary Electrophoresis

Presentation transcript:

Comprehensive Detection of Genomic Duplications and Deletions in the DMD Gene, by Use of Multiplex Amplifiable Probe Hybridization Stefan White, Margot Kalf, Qiang Liu, Michel Villerius, Dieuwke Engelsma, Marjolein Kriek, Ellen Vollebregt, Bert Bakker, Gert-Jan B. van Ommen, Martijn H. Breuning, Johan T. den Dunnen The American Journal of Human Genetics Volume 71, Issue 2, Pages 365-374 (August 2002) DOI: 10.1086/341942 Copyright © 2002 The American Society of Human Genetics Terms and Conditions

Figure 1 Outline of the MAPH technique. Probes are prepared such that all can be amplified with one primer pair. After overnight hybridization to immobilized genomic DNA, unbound probes are removed by stringent washing. Bound probes are then released and amplified in a quantitative manner. By fluorescent labeling and capillary electrophoresis, it is possible to both discriminate and quantify each probe. Changes in peak heights correspond to copy-number changes (i.e., deletions and duplications). The American Journal of Human Genetics 2002 71, 365-374DOI: (10.1086/341942) Copyright © 2002 The American Society of Human Genetics Terms and Conditions

Figure 2 Example of trace patterns obtained from an unaffected male individual. The numbers refer to DMD exon numbers: “1.x” and “2.x” (where x is the exon number) refer to BRCA1 and BRCA2, respectively, and “NF2” denotes a probe homologous to the first exon of the NF2 gene. Asterisks (*) indicate control peaks, and unlabeled peaks indicate noise. Probes range in size from 151 bp (DMD exon 34) to 602 bp (DMD exon 2). The American Journal of Human Genetics 2002 71, 365-374DOI: (10.1086/341942) Copyright © 2002 The American Society of Human Genetics Terms and Conditions

Figure 3 Patterns obtained from analysis of patients by use of probe set A. A, Male patient's duplicated exon 2, male patient's duplicated exons 14–21, and male control individual. B, Female carrier's duplicated exons 52–54 and female control individual. The American Journal of Human Genetics 2002 71, 365-374DOI: (10.1086/341942) Copyright © 2002 The American Society of Human Genetics Terms and Conditions

Figure 4 Analysis of different patient samples. A, Male patient L1's duplicated exons 8–13, with SD 0.05. B, Female carrier D36's deleted exons 10–46, with SD 0.05 C, Female carrier D70's duplicated exons 3–7, with SD 0.06. The American Journal of Human Genetics 2002 71, 365-374DOI: (10.1086/341942) Copyright © 2002 The American Society of Human Genetics Terms and Conditions

Figure 5 Independent mutations detected during the present study. Vertical bars represent the 18 exons tested using the Chamberlain et al. (1988) and Beggs et al. (1990) kits. A, Mutations detected in samples in which point mutations and deletions had been excluded, mainly by multiplex PCR. B, All other mutations detected. The American Journal of Human Genetics 2002 71, 365-374DOI: (10.1086/341942) Copyright © 2002 The American Society of Human Genetics Terms and Conditions