Genetic Variability of the Factor VIII Gene in the Normal Population

2005 ◽  
pp. 348-350 ◽  
Author(s):  
H. Singer ◽  
R. Ahmed ◽  
V. Ivaskevicius ◽  
M. Watzka ◽  
J. Schröder ◽  
...  
Keyword(s):  
Genetic Variability ◽  
Factor Viii ◽  
Normal Population ◽  
Factor Viii Gene

Molecular analysis of FVIII gene in severe HA patients of Costa Rica

2010 ◽  
Vol 30 (S 01) ◽  
pp. S150-S152
Author(s):  
G. Jiménez-Cruz ◽  
M. Mendez ◽  
P. Chaverri ◽  
P. Alvarado ◽  
W. Schröder ◽  
...  
Keyword(s):  
Factor Viii ◽  
Coagulation Factor ◽  
Costa Rican ◽  
Factor Viii Gene ◽  
Intron 22 Inversion ◽  
Intron 1 ◽  
Polymerase Chain ◽  
Inversion Analysis

SummaryHaemophilia A (HA) is X-chromosome linked bleeding disorders caused by deficiency of the coagulation factor VIII (FVIII). It is caused by FVIII gene intron 22 inversion (Inv22) in approximately 45% and by intron 1 inversion (Inv1) in 5% of the patients. Both inversions occur as a result of intrachromosomal recombination between homologous regions, in intron 1 or 22 and their extragenic copy located telomeric to the FVIII gene. The aim of this study was to analyze the presence of these mutations in 25 HA Costa Rican families. Patients, methods: We studied 34 HA patients and 110 unrelated obligate members and possible carriers for the presence of Inv22or Inv1. Standard analyses of the factor VIII gene were used incl. Southern blot and long-range polymerase chain reaction for inversion analysis. Results: We found altered Inv22 restriction profiles in 21 patients and 37 carriers. It was found type 1 and type 2 of the inversion of Inv22. During the screening for Inv1 among the HA patient, who were Inv22 negative, we did not found this mutation. Discussion: Our data highlight the importance of the analysis of Inv22 for their association with development of inhibitors in the HA patients and we are continuous searching of Inv1 mutation. This knowledge represents a step for genetic counseling and prevention of the inhibitor development.

Screening for mutations in factor VIII gene using the single-strand conformation polymorphism

1995 ◽  
Vol 5 (4) ◽  
pp. 357-359
Author(s):  
Khédoudja Nafa ◽  
Farida Meriane ◽  
Thouraya Chellali ◽  
Mohamed Benabadji ◽  
Abderrezak Reghis ◽  
...  
Keyword(s):  
Factor Viii ◽  
Single Strand Conformation Polymorphism ◽  
Single Strand ◽  
Factor Viii Gene ◽  
Conformation Polymorphism

Nucleotide changes around the splicing acceptor of intron 24 in the factor VIII gene and its impact on splicing

2006 ◽  
Vol 17 (1) ◽  
pp. 53-56
Author(s):  
Jyh-Pyng Gau ◽  
Chih-Cheng Chen ◽  
Hui-Chi Hsu ◽  
Chao-Hung Ho ◽  
Wing-Keung Chau ◽  
...  
Keyword(s):  
Factor Viii ◽  
Factor Viii Gene

THE RELATIVE EFFICACY OF GENETIC ANALYSIS AND COAGULATION TESTING IN THE DIAGNOSIS OF CARRIERS OF HEMOPHILIA A

1987 ◽  
Author(s):  
D Lillicrap ◽  
A R Giles ◽  
J J A Holden ◽  
B N White
Keyword(s):  
Factor Viii ◽  
Gene Deletion ◽  
Hemophilia A ◽  
Fragment Length Polymorphism ◽  
Genetic Diagnosis ◽  
Prior History ◽  
Carrier Status ◽  
Factor Viii Gene ◽  
Coagulation Testing ◽  
History Of

This study has assessed the relative benefits of restriction fragment length polymorphism (RFLP) linkage and coagulation testing in the diagnosis of carriers of hemophilia A. 221 samples from 55 families have been studied for intragenic and flanking RFLPs. All samples were tested for the Factor VIII intragenic Bell RFLP and for the flanking marker St 14. 83% of obligate carrier females were heterozygous at oneor both of these two polymorphicsites. However, only38% of these women were heterozygous at the intragenic site and might safely be offered prenatal diagnosis using this marker for the hemophilia mutation. Carrier diagnosis was obtained in 52% of 81 potential carriers tested. Diagnosis wasbased on intragenic RFLP information in only 48% of these cases. Genetic diagnosis was possible in 27 atrisk women from families with no prior history of hemophilia. Four of these women were diagnosed as carriers on the basis of a gross Factor VIII gene deletion and the remaining 23 women were identified as non-carriers by the Bell (11) and Stl4 (12) RFLP data. 39 women remained undiagnosed after gene analysis studies. 23 of these women were female relatives of sporadic hemophiliacs and thus RFLP segregation analysis was inappropriate. A further 9 potential carriers were undiagnosed because of homozygosity in key individuals in their families. In 31 potential carriers we have quantitated Factor VIII:C (one stage assay) and vWf:Ag (Laurell and ELISA) and derived probabilities for carrier status. In 3 women there was conflicting genetic and coagulation data. Meanwhile, in 12 undiagnosed women from sporadic families, carrier diagnostic probabilities of > 0.9 were obtained. These studies indicate that optimal carrier detection for hemophilia A requires more intragenic and closely linked RFLPs and the continuance of coagulation testing to assist women from sporadic families.

Localization and Characterization of Mutations Within the Factor VIII Gene in a Cohort of 212 Patients with Hemophilia A

2001 ◽  
pp. 270-272
Author(s):  
J. Schröder ◽  
V. Ivaskevicius ◽  
S. Rost ◽  
A. Müller ◽  
H.-H. Brackmann ◽  
...  
Keyword(s):  
Factor Viii ◽  
Hemophilia A ◽  
Factor Viii Gene
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