Volume 130, Issue 7, Pages (June 2006)

Slides:

Advertisements

Similar presentations

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

Advertisements

Detection of Exon 12 Mutations in the JAK2 Gene

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

Volume 129, Issue 5, Pages (November 2005)

An Alternative Method for Screening EGFR Mutation Using RFLP in Non-small Cell Lung Cancer Patients Ichiro Kawada, MD, Kenzo Soejima, MD, PhD, Hideo.

DNA-based prenatal exclusion of harlequin ichthyosis

Christoph Lübbert, Babett Holler Gastroenterology

A Novel Mutation and Large Size Polymorphism Affecting the V2 Domain of Keratin 1 in an African-American Family with Severe, Diffuse Palmoplantar Keratoderma.

Covering the Cover Gastroenterology

Jonathan A. Schumacher, Stephen D. Jenson, Kojo S. J

Isothermal Multiple Displacement Amplification

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

Splicing defects in the CFTR gene: Minigene analysis of two mutations, G>C and A>G Gwendal Dujardin, Diane Commandeur, Catherine Le Jossic-Corcos,

Rapid Simultaneous Screening of Factor V Leiden and G20210A Prothrombin Variant by Multiplex Polymerase Chain Reaction on Whole Blood by Encarnación Gómez,

Philippe Szankasi, Mohamed Jama, David W. Bahler

Volume 127, Issue 5, Pages (November 2004)

Ira J. Fox, Stephen C. Strom Gastroenterology

Volume 148, Issue 7, Pages (June 2015)

American Gastroenterological Association Institute Technical Review on the Management of Gastroesophageal Reflux Disease Peter J. Kahrilas, Nicholas.

Differential HFE allele expression in hemochromatosis heterozygotes

Covering the Cover Gastroenterology

Acquired BRAF V600E Mutation as Resistant Mechanism after Treatment with Third- Generation EGFR Tyrosine Kinase Inhibitor Alessandra Bearz, MD, Elisa.

Guro E. Lind, Terje Ahlquist, Ragnhild A. Lothe Gastroenterology

Volume 150, Issue 4, Pages (April 2016)

Toward a Survey of Somatic Mutation of the NF1 Gene in Benign Neurofibromas of Patients with Neurofibromatosis Type 1 Ingrid Eisenbarth, Kim Beyer, Winfrid.

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

Volume 54, Issue 3, Pages (September 1998)

Detection of Exon 12 Mutations in the JAK2 Gene

A 39-bp Deletion Polymorphism in PTEN in African American Individuals

Inconspicuous Insertion 22;12 in Myxoid/Round Cell Liposarcoma Accompanied by the Secondary Structural Abnormality der(16)t(1;16) Nathan C. Birch, Cristina.

Detection of FLT3 Internal Tandem Duplication and D835 Mutations by a Multiplex Polymerase Chain Reaction and Capillary Electrophoresis Assay Kathleen.

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

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

Rare Sequence Variation in the Genome Flanking a Short Tandem Repeat Locus Can Lead to a Question of “Nonmaternity” Anne Deucher, Tsoyu Chiang, Iris.

Andrew Rowan, Ian Tomlinson Journal of Investigative Dermatology

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

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

Volume 119, Issue 4, Pages (October 2000)

A Novel Method for Creating Artificial Mutant Samples for Performance Evaluation and Quality Control in Clinical Molecular Genetics Michael Jarvis, Ramaswamy.

ATM Mutations and Phenotypes in Ataxia-Telangiectasia Families in the British Isles: Expression of Mutant ATM and the Risk of Leukemia, Lymphoma, and.

P16INK4a and p14ARF Tumor Suppressor Genes Are Commonly Inactivated in Cutaneous Squamous Cell Carcinoma Victoria L. Brown, Catherine A. Harwood, Tim.

Volume 150, Issue 7, Pages (June 2016)

Detection of the Activating JAK2 V617F Mutation in Paraffin-Embedded Trephine Bone Marrow Biopsies of Patients with Chronic Myeloproliferative Diseases

Ashwin N. Ananthakrishnan, David Lieberman Gastroenterology

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

A Missense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia in a Family of Irish Travellers Wasim Ahmad, Alan.

A Novel Point Mutation Affecting the Tyrosine Kinase Domain of the TRKA Gene in a Family with Congenital Insensitivity to Pain with Anhidrosis Shinichi.

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

Novel Polymorphism in the FMR1 Gene Resulting in a “Pseudodeletion” of FMR1 in a Commonly Used Fragile X Assay Thomas M. Daly, Arash Rafii, Rick A. Martin,

Volume 149, Issue 6, Pages (November 2015)

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

The Rise and Fall (and Rise?) of Endoscopic Anti-Reflux Procedures

Olivier Rosmorduc, Raoul Poupon Gastroenterology

The Dawning of a New Editorial Board for Gastroenterology

S. Alexiou-Daniel, A. Stylianakis, A. Papoutsi, I. Zorbas, A. Papa, A

Wook Lew Journal of Investigative Dermatology

Michelle Maria Pietzak Gastroenterology

Volume 139, Issue 6, Pages e1 (December 2010)

Won–Seok Jo, Prathap Bandipalliam, Kristen M. Shannon, Kristin B

A Mutation in the V1 Domain of K16 is Responsible for Unilateral Palmoplantar Verrucous Nevus Alessandro Terrinoni, Vincenzo De Laurenzi, Eleonora Candi,

Reply Gastroenterology

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

Analysis of the lineage relationship between mast cells and basophils using the c-kit D816V mutation as a biologic signature Can N. Kocabas, MD, Akif.

Gonosomal Mosaicism for a Nonsense Mutation (R1947X) in the NF1 Gene in Segmental Neurofibromatosis Type 1 Claudia Consoli, Celia Moss, Stuart Green,

Mutations in CHEK2 Associated with Prostate Cancer Risk

Two Exon-Skipping Mutations as the Molecular Basis of Succinic Semialdehyde Dehydrogenase Deficiency (4-Hydroxybutyric Aciduria) Ken L. Chambliss, Debra.

Identification and Characterization of a Mutation, in the Human UDP-Galactose-4- Epimerase Gene, Associated with Generalized Epimerase-Deficiency Galactosemia

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,

Chenming Xu, Ph. D. , Bingsen Xu, M. Sc. , Hefeng Huang, M. D

Identification of Novel pro-α2(IX) Collagen Gene Mutations in Two Families with Distinctive Oligo-Epiphyseal Forms of Multiple Epiphyseal Dysplasia Paul.

Presentation transcript:

Volume 130, Issue 7, Pages 2031-2038 (June 2006) Prevalence of the Activating JAK2 Tyrosine Kinase Mutation V617F in the Budd–Chiari Syndrome Raj K. Patel, Nicholas C. Lea, Michael A. Heneghan, Nigel B. Westwood, Dragana Milojkovic, Murugaiyan Thanigaikumar, Deborah Yallop, Roopen Arya, Antonio Pagliuca, Joop Gäken, Julia Wendon, Nigel D. Heaton, Ghulam J. Mufti Gastroenterology Volume 130, Issue 7, Pages 2031-2038 (June 2006) DOI: 10.1053/j.gastro.2006.04.008 Copyright © 2006 American Gastroenterological Association Institute Terms and Conditions

Figure 1 Representative results of allele-specific PCR. The panel shows agarose gel electrophoresis of PCR products generated by allele-specific PCR performed on DNA from hematologically normal subjects and DNA extracted from patients with BCS. The presence of the lower 203-bp band indicates the presence of the V617F mutation. (Lanes 1–5) Wild-type controls all have a single band of 364 bp indicating a wild-type JAK2 allele. (Lanes 6, 7, and 10) BCS patient samples positive for the V617F mutation. (Lanes 8 and 9) BCS patient samples that are V617F negative. (Lane 11) V617-positive PV patient. (Lane 12) Hematologically normal subject. (Lane 13) No DNA control. Gastroenterology 2006 130, 2031-2038DOI: (10.1053/j.gastro.2006.04.008) Copyright © 2006 American Gastroenterological Association Institute Terms and Conditions

Figure 2 Sequence traces of JAK2 mutant allele. Antisense sequences showing the G to T mutation (C to A in antisense) in JAK2. Traces are from PCR products generated from a hematologically normal control sample (wild type), a JAK2V617F mutant BCS patient sample (mixed) (sample from lane 6, Figure 1) and a PV patient carrying the V617F mutation (sample from lane 11 Figure 1). The arrow indicates the mutant allele peak underlying the wild-type sequence in the BCS sample. Gastroenterology 2006 130, 2031-2038DOI: (10.1053/j.gastro.2006.04.008) Copyright © 2006 American Gastroenterological Association Institute Terms and Conditions