Citations to this article

An intragenic deletion of the factor IX gene in a family with hemophilia B.
S H Chen, … , C R Scott, K Kurachi
S H Chen, … , C R Scott, K Kurachi
Published December 1, 1985
Citation Information: J Clin Invest. 1985;76(6):2161-2164. https://doi.org/10.1172/JCI112222.
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Research Article

An intragenic deletion of the factor IX gene in a family with hemophilia B.

Abstract

A family of seven patients severely afflicted with hemophilia B has been studied for their factor IX genes through the use of factor IX cDNA and genomic DNA probes. The patients had detectable (less than 10% of normal) factor IX antigen in urine and no detectable inhibitors in sera to factor IX protein. Based on the DNA hybridization analysis, these patients showed a partial intragenic deletion in their factor IX gene. The deletion included two exons (exons V and VI) coding for the amino acid sequence from number 85 to 195 of the factor IX protein. The deleted portion of the gene contained the entire factor IX activation peptide. The length of the deletion was estimated to be 10 +/- 0.3 kilobase pairs. This specific gene has been named FIXSeattle. In this family both the deletion and a Taq 1 restriction fragment length polymorphism can be used as a useful marker for accurate detection of female carriers of the deficient factor IX gene.

Authors

S H Chen, S Yoshitake, P F Chance, G L Bray, A R Thompson, C R Scott, K Kurachi

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Citations to this article (35)

Title and authors Publication Year
Animal Models for the Study of Human Disease
HA Lawson 		Animal Models for the Study of Human Disease 2013
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JD Stone, AS Chervin, DH Aggen, DM Kranz 		Protein Engineering for Therapeutics Part B 2012
Causative mutation and single nucleotide polymorphisms associated with inhibitor development in patients with hemophilia
K SHINOZAWA 		Japanese Journal of Thrombosis and Hemostasis 2012
Clinical correlates among 49 families with hemophilia A and factor VIII gene inversions
AF Weinmann, JM Schoof, AR Thompson 		American Journal of Hematology 1996
Accurate and rapid detection of heterozygous carriers of a deletion by combined polymerase chain reaction and high-performance liquid chromatography
J Asakawa, C Satoh, Y Yamasaki, SH Chen 		Proceedings of the National Academy of Sciences 1992
Factor IXMadrid 2: a deletion/insertion in factor IX gene which abolishes the sequence of the donor junction at the exon IV-intron d splice site
J Solera, M Magallón, J Martin-Villar, A Coloma 		The American Journal of Human Genetics 1992
Three missense mutations in arg codons of the factor viii genes of mild to moderately severe hemophilia a patients
AP Reiner, SM Stray, AR Thompson 		Thrombosis Research 1992
Factor IX mutations: Rapid, direct screening methods for 20 new families with hemophilia B
AR Thompson, JM Schoof, AF Weinmann, SH Chen 		Thrombosis Research 1992
Screening for nonsense mutations in patients with severe hemophilia A can provide rapid, direct carrier detection
AP Reiner, AR Thompson 		Human Genetics 1992
Gene frequencies of alcohol dehydrogenase2 and aldehyde dehydrogenase2 in Northwest Coast Amerindians
SH Chen, M Zhang, CR Scott 		Human Genetics 1992
CG dinucleotide transitions in the factor IX gene account for about half of the point mutations in hemophilia B patients: a Seattle series
SH Chen, M Zhang, EW Lovrien, CR Scott, AR Thompson 		Human Genetics 1991
Recombinant Technology in Hemostasis and Thrombosis
LW Hoyer, WN Drohan 		1991
Hemophilia B: diagnostic value of RFLP analysis in 19 of the 20 known Finnish families
AE Lehesjoki, V Rasi, A Chapelle 		Clinical Genetics 1990
Recombination between two 14-bp homologous sequences as the mechanism for gene deletion in factor IX Seattle 1
SH Chen, CR Scott 		The American Journal of Human Genetics 1990
Three point mutations in the factor IX genes of five hemophilia B patients. Identification strategy using localization by altered epitopes in their hemophilic proteins
SH Chen, AR Thompson, M Zhang, CR Scott 		Journal of Clinical Investigation 1989
Factor IXPortland: a nonsense mutation (CGA to TGA) resulting in hemophilia B
SH Chen, CR Scott, J Schoof, EW Lovrien, K Kurachi 		The American Journal of Human Genetics 1989
Identification of a single nucleotide C-to-T transition and five different deletions in patients with severe hemophilia B
M Ludwig, R Schwaab, A Eigel, J Horst, H Egli, HH Brackmann, K Olek 		The American Journal of Human Genetics 1989
The factor IX BamHI polymorphism: T-to-G transversion at the nucleotide sequence-561: The BamHI/MSPI haplotypes in blacks and causasians
M Zhang, SH Chen, CR Scott, AR Thompson 		Human Genetics 1989
A moderate form of hemophilia B is caused by a novel mutation in the protease domain of factor IXVancouver
VA Geddes, BF Bonniec, GV Louie, GD Brayer, AR Thompson, RT MacGillivray 		The Journal of biological chemistry 1989
Identification of a CpG mutation in the coagulation factor-IX gene by analysis of amplified DNA sequences
V Siguret, S Amselem, M Vidaud, Z Assouline, D Kerbiriou-Nabias, G Piétu, M Goossens, MJ Larrieu, B Bahnak, D Meyer, JM Lavergne 		British Journal of Haematology 1988
The molecular basis of blood coagulation
B Furie, BC Furie 		Cell 1988
Nullisomic deletion of the mcf.2 transforming gene in two haemophilia B patients
DS Anson, DJ Blake, PR Winship, D Birnbaum, GG Brownlee 		The EMBO Journal 1988
An insertion within the factor IX gene: hemophilia BEl Salvador
SH Chen, CR Scott, JR Edson, K Kurachi 		The American Journal of Human Genetics 1988
Molecular studies of haemophilia B in Sweden: Identification of patients with total deletion of the factor IX gene and without inhibitory antibodies
C Wadelius, M Blombck, U Pettersson 		Human Genetics 1988
A complete deletion of the factor IX gene and new TaqI variant in a hemophilia B kindred
SA Taylor, DP Lillicrap, V Blanchette, AR Giles, JJ Holden, BN White 		Human Genetics 1988
Heterogeneity of the factor IX locus in nine hemophilia B inhibitor patients
RJ Matthews, DS Anson, IR Peake, AL Bloom 		Journal of Clinical Investigation 1987
Hemophilia B (Christmas disease) variants and carrier detection analyzed by DNA probes
MC Poon, DH Chui, M Patterson, DM Starozik, LS Dimnik, DI Hoar 		Journal of Clinical Investigation 1987
Hemophilia B (factor IXSeattle 2) due to a single nucleotide deletion in the gene for factor IX
BG Schach, S Yoshitake, EW Davie 		Journal of Clinical Investigation 1987
The Molecular Genetics of Hemophilia B
VA Geddes, RT MacGillivray 		Transfusion Medicine Reviews 1987
RFLPs of factor IX gene in Japanese haemophilia B families and gene deletion in two high-responder-inhibitor patients
S Mikami, M Nishino, T Nishimura, H Fukui 		The Japanese Journal of Human Genetics 1987
Use of DNA probes for diagnosis and prevention of inherited disorders
HH Ropers 		European Journal of Clinical Investigation 1987
Alloantibodies in hemophilia B binding to multiple factor IX epitopes
AR Thompson 		Thrombosis Research 1987
The New Dimensions of Warfarin Prophylaxis
S Wessler, CG Becker, Y Nemerson 		1987
Partial factor IX protein in a pedigree with hemophilia B due to a partial gene deletion
GL Bray, AR Thompson 		Journal of Clinical Investigation 1986
The screening of Duchenne muscular dystrophy patients for submicroscopic deletions
K Hart, C Cole, A Walker, S Hodgson, L Johnson, V Dubowitz, P Ray, R Worton, M Bobrow 		Journal of medical genetics 1986

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