Alterations in exon 4 of the p53 gene in gastric carcinoma

Slides:

Advertisements

Similar presentations

Thomas M. Williams The Journal of Molecular Diagnostics

Advertisements

Volume 118, Issue 6, Pages (June 2000)

It's time to bring the best and brightest back to gastroenterology!

Germline and Somatic Mutations of the STK11/LKB1 Peutz-Jeghers Gene in Pancreatic and Biliary Cancers Gloria H. Su, Ralph H. Hruban, Ravi K. Bansal,

Structural features of the p53 gene and its encoded protein

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

Volume 117, Issue 1, Pages (July 1999)

Robert H. Oakley, PhD, John A. Cidlowski, PhD

Volume 123, Issue 2, Pages (August 2002)

Volume 116, Issue 2, Pages (February 1999)

Leptin, obesity, and liver disease

Volume 119, Issue 3, Pages (September 2000)

KRAS, NRAS, PIK3CA Exon 20, and BRAF Genotypes in Synchronous and Metachronous Primary Colorectal Cancers Katharina Balschun, Jochen Haag, Ann-Kathrin.

Deficiency of the ADP-Forming Succinyl-CoA Synthase Activity Is Associated with Encephalomyopathy and Mitochondrial DNA Depletion Orly Elpeleg, Chaya.

Philippe Szankasi, Mohamed Jama, David W. Bahler

Volume 118, Issue 6, Pages (June 2000)

Volume 116, Issue 5, Pages (May 1999)

A Clinical Grade Sequencing-Based Assay for CEBPA Mutation Testing

Down Syndrome and Malignancies: A Unique Clinical Relationship

Adding Specificity to Artificial Transcription Activators

Mutation of a Nuclear Respiratory Factor 2 Binding Site in the 5′ Untranslated Region of the ADSL Gene in Three Patients with Adenylosuccinate Lyase Deficiency

Biology of the immunomodulatory molecule HLA-G in human liver diseases

Wilson’s Disease Clinical Gastroenterology and Hepatology

Evaluation and Treatment of Obesity

Volume 147, Issue 2, Pages (August 2014)

Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular.

A novel mutation of HFE explains the classical phenotype of genetic hemochromatosis in a C282Y heterozygote Daniel F. Wallace, James S. Dooley, Ann P.

Volume 115, Issue 1, Pages (July 1998)

CFC1 Mutations in Patients with Transposition of the Great Arteries and Double-Outlet Right Ventricle Elizabeth Goldmuntz, Richard Bamford, Jayaprakash.

Volume 54, Issue 3, Pages (September 1998)

The CARD15 (also known as NOD2) gene in Crohn's disease: Are there implications for current clinical practice? Jean–Frédéric Colombel Clinical Gastroenterology.

Volume 54, Issue 3, Pages (September 1998)

E.M. Dauber, B. Glock, W.R. Mayr

The Wiskott-Aldrich syndrome

Volume 117, Issue 3, Pages (September 1999)

Splice Site and Deletion Mutations in Keratin (KRT1 and KRT10) Genes: Unusual Phenotypic Alterations in Scandinavian Patients with Epidermolytic Hyperkeratosis

NRAS, NRAS, Which Mutation Is Fairest of Them All?

E. Wang, Y. -C. Ding, P. Flodman, J. R. Kidd, K. K. Kidd, D. L

Mutations in the DBP-Deficiency Protein HSD17B4 Cause Ovarian Dysgenesis, Hearing Loss, and Ataxia of Perrault Syndrome Sarah B. Pierce, Tom Walsh, Karen.

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

Null Alleles of the COL5A1 Gene of Type V Collagen Are a Cause of the Classical Forms of Ehlers-Danlos Syndrome (Types I and II) Ulrike Schwarze, Mary.

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,

Olivier Rosmorduc, Raoul Poupon Gastroenterology

Hemochromatosis: Diagnosis and management

A Novel Arginine→Serine Mutation in EDA1 in a Japanese Family with X-Linked Anhidrotic Ectodermal Dysplasia Noriaki Aoki, Kaoru Ito, Toshiaki Tachibana,

Richard A. King, Rebecca K. Willaert, Ramona M

Opitz G/BBB Syndrome in Xp22: Mutations in the MID1 Gene Cluster in the Carboxy- Terminal Domain Karin Gaudenz, Erich Roessler, Nandita Quaderi, Brunella.

Volume 121, Issue 6, Pages (December 2001)

Identification of FOXP2 Truncation as a Novel Cause of Developmental Speech and Language Deficits Kay D. MacDermot, Elena Bonora, Nuala Sykes, Anne-Marie.

Weiguo Chen, PhD, Gurjit K. Khurana Hershey, MD, PhD

NF-κB/Rel/IκB: Implications in gastrointestinal diseases

Brad H. Rovin, Ling Lu, Xiaolan Zhang Kidney International

Hirokatsu Yanagihori, Noritaka Oyama, Koichiro Nakamura, Fumio Kaneko

Tibial Muscular Dystrophy Is a Titinopathy Caused by Mutations in TTN, the Gene Encoding the Giant Skeletal-Muscle Protein Titin Peter Hackman, Anna.

Volume 57, Issue 6, Pages (June 2000)

Identification of Recurrent Mutations in the ARS (Component B) Gene Encoding SLURP-1 in Two Families with Mal de Meleda Kimberley Morine Ward, Jülide.

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

Arun Kumar, Satish C. Girimaji, Mahesh R. Duvvari, Susan H. Blanton

Significant association of FcɛRIα promoter polymorphisms with aspirin-intolerant chronic urticaria Jin-Sik Bae, MS, Seung-Hyun Kim, PhD, Young-Min Ye,

Establishment of a Molecular Diagnostic System for Spinal Muscular Atrophy Jian Zeng, Yanhong Lin, Aizhen Yan, Longfeng Ke, Zhongyong Zhu, Fenghua Lan

Emma L. Williams, PhD, Markus J. Kemper, MD, Gill Rumsby, PhD, FRCPath

Mutations in CHEK2 Associated with Prostate Cancer Risk

Shilin Zhang, M. D. , Tao Wang, M. D. , Jun Yang, M. D. , Zhuo Liu, M

Association of a polymorphism in the ornithine decarboxylase gene with male androgenetic alopecia Rachel A. Garton, MD, Amy J. McMichael, MD, Joel Sugarman,

Evidence for genetic heterogeneity in Dent's disease

Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular.

Fang Wang, Yunfeng Wang, Jie Ding, Jiyun Yang Kidney International

Sequence variation analysis of the prolactin receptor C-terminal region in women with premature ovarian failure Anne Bachelot, M.D., Ph.D., Justine Bouilly,

A novel Arg615Ser mutation of androgen receptor DNA-binding domain in three 46,XY sisters with complete androgen insensitivity syndrome and bilateral.

Identification of novel polymorphisms in the nuclear protein genes and their relationship with human sperm protamine deficiency and severe male infertility

Presentation transcript:

Alterations in exon 4 of the p53 gene in gastric carcinoma Tara Shepherd, Dawn Tolbert, Jacqueline Benedetti, John Macdonald, Grant Stemmermann, Jonathan Wiest, Gary DeVoe, Mary Ann Miller, Jiang Wang, Amy Noffsinger, Cecilia Fenoglio–Preiser Gastroenterology Volume 118, Issue 6, Pages 1039-1044 (June 2000) DOI: 10.1016/S0016-5085(00)70356-8 Copyright © 2000 American Gastroenterological Association Terms and Conditions

Fig. 1 Diagrammatic representation of exon 4 showing a transcriptional activation region (TAR) at aa 32-42, a phosphorylation site at aa 33 (small p) , an adenovirus E1b protein binding site, a DNA-specific binding domain at aa 90-279, and a structural domain at aa 61-94.12 The stars indicate the location of the 7 mutations. The capital P indicates 2 polymorphic sites. Gastroenterology 2000 118, 1039-1044DOI: (10.1016/S0016-5085(00)70356-8) Copyright © 2000 American Gastroenterological Association Terms and Conditions

Fig. 2 Examples of 2 of the mutations that were present. (A) Insertion of a C (arrow). (B) C→T mutation. Gastroenterology 2000 118, 1039-1044DOI: (10.1016/S0016-5085(00)70356-8) Copyright © 2000 American Gastroenterological Association Terms and Conditions

Fig. 3 The 3 codon 72 genotypes. (A) Homozygous CGC encoding arginine. (B) Heterozygous arginine/proline with one allele of CGC and the other CCC. (C) Homozygous CCC encoding proline. Gastroenterology 2000 118, 1039-1044DOI: (10.1016/S0016-5085(00)70356-8) Copyright © 2000 American Gastroenterological Association Terms and Conditions