A Novel Mutation of Arg306 of Factor V Gene in Hong Kong Chinese

Slides:



Advertisements
Similar presentations
Diagnosis with PCR This is a preparation of DNA. We zoomed in a portion of a gene. We know that two primers, Forward and Reverse, will hybridize at specific.
Advertisements

Molecular Biology of Genes Chapters DNA Technology (not in your book)
Using a Single Nucleotide Polymorphism to Predict Bitter Tasting Ability Lab Overview.
Using a Single Nucleotide Polymorphism to Predict Bitter Tasting Ability Lab Overview.
Date of download: 6/21/2016 Copyright © 2016 American Medical Association. All rights reserved. From: Preimplantation Diagnosis for Fanconi Anemia Combined.
From: Three Novel Pax6 Alleles in the Mouse Leading to the Same Small-Eye Phenotype Caused by Different Consequences at Target Promoters Invest. Ophthalmol.
A Common Human β Globin Splicing Mutation Modeled in Mice
by S. Kangsadalampai, and P.G. Board
Todd S. Laughlin, Michael W. Becker, Jane L. Liesveld, Deborah A
Erythroblastic Inclusions in Dominantly Inherited β Thalassemias
Screening for Mutations in Kidney-Related Genes Using SURVEYOR Nuclease for Cleavage at Heteroduplex Mismatches  Konstantinos Voskarides, Constantinos.
The V410I (G1228A) variant of the caspase-10 gene is a common polymorphism in the Danish population by Kirsten Grønbæk, Tine Dalby, Jesper Zeuthen, Elisabeth.
The spectrum of PIG-A gene mutations in aplastic anemia/paroxysmal nocturnal hemoglobinuria (AA/PNH): a high incidence of multiple mutations and evidence.
DNA-based prenatal exclusion of harlequin ichthyosis
A Pseudo-Full Mutation Identified in Fragile X Assay Reveals a Novel Base Change Abolishing an EcoRI Restriction Site  Shujian Liang, Harold N. Bass,
Homozygous deletion of HFE: the Sardinian hemochromatosis?
FcγRIIIa-158V/F Polymorphism Influences the Binding of IgG by Natural Killer Cell FcγRIIIa, Independently of the FcγRIIIa-48L/R/H Phenotype by Harry R.
by Cheng-Han Huang, Ying Chen, Marion E. Reid, and Christine Seidl
Mutation Spectrum of the Survival of Motor Neuron 1 and Functional Analysis of Variants in Chinese Spinal Muscular Atrophy  Yu-jin Qu, Jin-li Bai, Yan-yan.
A Common Genetic Polymorphism (46 C to T Substitution) in the 5′-Untranslated Region of the Coagulation Factor XII Gene Is Associated With Low Translation.
Volume 69, Issue 1, Pages (January 2006)
Betaine, Dimethyl Sulfoxide, and 7-Deaza-dGTP, a Powerful Mixture for Amplification of GC-Rich DNA Sequences  Marco Musso, Renata Bocciardi, Sara Parodi,
Yanggu Shi, Sharon F. Terry, Patrick F. Terry, Lionel G
by Fawwaz Yassin, Sheldon P. Rothenberg, Sreedhar Rao, Marilyn M
Increased frequencies of glutathione S-transferase(GSTM1 and GSTT1) gene deletions in Korean patients with acquired aplastic anemia by Kyung A. Lee, Sun.
Rapid Simultaneous Screening of Factor V Leiden and G20210A Prothrombin Variant by Multiplex Polymerase Chain Reaction on Whole Blood by Encarnación Gómez,
by Rocio Gonzalez-Conejero, Maria L
Polymorphisms within glutathione S-transferase genes (GSTM1, GSTT1, GSTP1) and risk of relapse in childhood B-cell precursor acute lymphoblastic leukemia:
Gene expression and immunologic consequence of SPAN-Xb in myeloma and other hematologic malignancies by Zhiqing Wang, Yana Zhang, Haichao Liu, Emanuela.
Loss of Heterozygosity and Microsatellite Instability at theMLL Locus Are Common in Childhood Acute Leukemia, but not in Infant Acute Leukemia by Julie.
Combination of a Novel Frameshift Mutation (1929delCA) and a Recurrent Nonsense Mutation (W610X) of the LAMB3 Gene in a Japanese Patient with Herlitz.
Toward a Survey of Somatic Mutation of the NF1 Gene in Benign Neurofibromas of Patients with Neurofibromatosis Type 1  Ingrid Eisenbarth, Kim Beyer, Winfrid.
A Comparative Study of Fibrous Dysplasia and Osteofibrous Dysplasia with Regard to GSα Mutation at the Arg201 Codon  Akio Sakamoto, Yoshinao Oda, Yukihide.
Investigation of the human stem cell factor KIT ligand gene, KITLG, in women with 46,XX spontaneous premature ovarian failure  Emily S. Hui, B.A., Ekemini.
Figure 3 Transcripts of the splicing mutation (c
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.
Splice Site and Deletion Mutations in Keratin (KRT1 and KRT10) Genes: Unusual Phenotypic Alterations in Scandinavian Patients with Epidermolytic Hyperkeratosis 
Structure of the GM2A Gene: Identification of an Exon 2 Nonsense Mutation and a Naturally Occurring Transcript with an In-Frame Deletion of Exon 2  Biao.
Volume 60, Issue 5, Pages (November 2001)
SINE insertion in exon 2 of the ATP1B2 gene (ATP1B2:c.130_131ins227).
Volume 119, Issue 4, Pages (October 2000)
Long-Range Polymerase Chain Reaction for Specific Full-Length Amplification of the Human Keratin 14 Gene and Novel Keratin 14 Mutations in Epidermolysis.
Maternal Uniparental Meroisodisomy in the LAMB3 Region of Chromosome 1 Results in Lethal Junctional Epidermolysis Bullosa  Yasuko Takizawa, Leena Pulkkinen,
HOXA10 mutations in congenital absence of uterus and vagina
A Novel S115G Mutation of CGI-58 in a Turkish Patient with Dorfman–Chanarin Syndrome  Zied Ben Selma, Sebnem Yilmaz, Pierre Olivier Schischmanoff, Astrid.
Dominant Inheritance of Sialuria, an Inborn Error of Feedback Inhibition  Jules G. Leroy, Raili Seppala, Marjan Huizing, George Dacremont, Helena De Simpel,
A Novel Point Mutation Affecting the Tyrosine Kinase Domain of the TRKA Gene in a Family with Congenital Insensitivity to Pain with Anhidrosis  Shinichi.
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,
Feras M. Hantash, Arlene Rebuyon, Mei Peng, Joy B
X-Linked Anhidrotic (Hypohidrotic) Ectodermal Dysplasia Caused by a Novel Mutation in EDA1 Gene: 406T>G (Leu55Arg)  Francisco Martínez, José María Millán,
Characterization and mutation analysis of the human FORMIN-2 (FMN2) gene in women with unexplained infertility  David A. Ryley, M.D., Hsin-Hung Wu, M.D.,
Systematic Analysis of Molecular Defects in the Ferrochelatase Gene from Patients with Erythropoietic Protoporphyria  U.B. Rüfenacht, L. Gouya, X. Schneider-Yin,
Common Mutations in Arg304 of the p63 Gene in Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome: Lack of Genotype–Phenotype Correlation and Implications.
Ken-Ichi Egoshi, Koichiro Akakura, Takaomi Kodama, Haruo Ito 
Accurate, simple, and inexpensive assays to diagnose F8 gene inversion mutations in hemophilia A patients and carriers by Debargh Dutta, Devi Gunasekera,
Volume 56, Issue 5, Pages (November 1999)
Wook Lew  Journal of Investigative Dermatology 
Volume 55, Issue 1, Pages (January 1999)
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,
Follicle-stimulating hormone receptor gene mutations are rare in Japanese women with premature ovarian failure and polycystic ovary syndrome  Kenji Takakura,
Is Screening of the Candidate Gene Necessary in Unrelated Partners of Members of Families with Herlitz Junctional Epidermolysis Bullosa?  Alfred Klausegger,
Intragenic telSMN Mutations: Frequency, Distribution, Evidence of a Founder Effect, and Modification of the Spinal Muscular Atrophy Phenotype by cenSMN.
Association of a polymorphism in the ornithine decarboxylase gene with male androgenetic alopecia  Rachel A. Garton, MD, Amy J. McMichael, MD, Joel Sugarman,
Kit-Sing Au, Adelaide A. Hebert, E. Steve Roach, Hope Northrup 
Richard J. Wenstrup, Jane B. Florer, Marcia C
Marshall Syndrome Associated with a Splicing Defect at the COL11A1 Locus  Andrew J. Griffith, Leslie K. Sprunger, D. Alexa Sirko-Osadsa, George E. Tiller,
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:

A Novel Mutation of Arg306 of Factor V Gene in Hong Kong Chinese by W.P. Chan, C.K. Lee, Y.L. Kwong, C.K. Lam, and Raymond Liang Blood Volume 91(4):1135-1139 February 15, 1998 ©1998 by American Society of Hematology

DGGE of the amplified exon 10 of factor V gene. DGGE of the amplified exon 10 of factor V gene. Lanes 1 and 3, contol with a homozygosity for G1691→A mutation. Lane 2, control with a heterozygosity for G1691→A mutation. Lane 8, normal control. Lanes 9 and 11, homozygous for G1628→A mutation. Lanes 4 through 7, 10, and 12, heterozygous for G1628→A mutation. (Upstream primer, GC40-TCAGG CAGGA ACAAC ACCAT; downstream primer, GGTTA CTTCA AGGAC AAAAT.). W.P. Chan et al. Blood 1998;91:1135-1139 ©1998 by American Society of Hematology

DGGE of the amplified exon 7 of factor V gene. DGGE of the amplified exon 7 of factor V gene. Lane 1, normal control. Lanes 2 through 7, thrombotic patients. Lane 2 shows the heteroduplexes as the result of a heterozygous A1090→G mutation. (Upstream primer, [GC-40]-TGTCC TAACT CAGCT GGGAT; downstream primer, gtatg aaccc caaca actca.)‏ W.P. Chan et al. Blood 1998;91:1135-1139 ©1998 by American Society of Hematology

DNA sequence analysis of an abnormal amplified fragment of exon 7 of factor V gene. DNA sequence analysis of an abnormal amplified fragment of exon 7 of factor V gene. A heterozygous A1090→G mutation was identified. W.P. Chan et al. Blood 1998;91:1135-1139 ©1998 by American Society of Hematology

Polyacrylamide gel electrophoresis following theBstNI restriction enzyme digest of a 240-bp DNA fragment of exon 7 of factor V gene. Polyacrylamide gel electrophoresis following theBstNI restriction enzyme digest of a 240-bp DNA fragment of exon 7 of factor V gene. Lane M, molecular weight marker. Lane 1,BstNI-digested sample from a normal control showing the two DNA fragments, 100 and 140 bp. Lane 2, BstNI-digested sample from a thrombotic patient heterozygous for A1090→G mutation. It shows three DNA fragments: 100, 140, and 240 bp. Lane 3,BstNI-digested sample from a thrombotic patient without the A1090→G mutation. Similar to lane 1, it shows only 2 DNA fragments, 100 and 140 bp. (Upstream primer, [GC-40]-TGTCC TAACT CAGCT GGGAT; downstream primer, gtatg aaccc caaca actca.)‏ W.P. Chan et al. Blood 1998;91:1135-1139 ©1998 by American Society of Hematology