A full molecular picture of F8 intron 1 inversion created with optical genome mapping

Haemophilia ◽  
2021 ◽  
Author(s):  
Somayyeh Fahiminiya ◽  
Georges‐Etienne Rivard ◽  
Patrick Scott ◽  
Alexandre Montpetit ◽  
François Bacot ◽  
...  
Keyword(s):  
Genome Mapping ◽  
Intron 1 ◽  
Intron 1 Inversion ◽  
Molecular Picture

ABNORMAL PATTERN FOR FVIII GENE INTRON 1 INVERSION IN ONE BRAZILIAN FAMILY

2007 ◽  
Vol 5 ◽  
pp. P-T-129-P-T-129
Author(s):  
S.F. Pio ◽  
D. Zouain ◽  
G. Correa ◽  
S.M. Rezende
Keyword(s):  
Intron 1 ◽  
Abnormal Pattern ◽  
Intron 1 Inversion

Analysis of factor VIII gene intron 1 inversion in Argentinian families with severe haemophilia A and a review of the literature

2004 ◽  
Vol 15 (7) ◽  
pp. 569-572 ◽  
Author(s):  
Liliana C Rossetti ◽  
Miguel Candela ◽  
Raúl Pérez Bianco ◽  
Miguel de Tezanos Pinto ◽  
Andrea Western ◽  
...  
Keyword(s):  
Factor Viii ◽  
Haemophilia A ◽  
Severe Haemophilia ◽  
Review Of The Literature ◽  
Factor Viii Gene ◽  
Intron 1 ◽  
Intron 1 Inversion

Analysis of Structural Changes of the Factor VIII Gene: Intron 1 and 22, in Costarrican Families with Severe Haemophilia A.

Blood ◽  
2005 ◽  
Vol 106 (11) ◽  
pp. 4096-4096
Author(s):  
Lizbeth Salazar-Sanchez ◽  
Guillermo Jimenez-Cruz ◽  
Pilar Chaverri ◽  
Winnie Schroeder ◽  
Karin Wulff ◽  
...  
Keyword(s):  
Factor Viii ◽  
Southern Blot ◽  
Structural Changes ◽  
Coagulation Factor ◽  
Homologous Region ◽  
Factor Viii Gene ◽  
Intron 22 Inversion ◽  
Intron 1 ◽  
Intron 1 Inversion

Abstract Hemophilia A (HA) is X-chromosome linked bleeding disorders caused by deficiency of the coagulation factor VIII. The disease is caused by Factor VIII gene intron 22 inversion in approximately 50% of the patients and by intron 1 inversion in 5% of the patients. Both inversions occur as a result of intrachromosomal recombination between homologous region, in intron 1 or 22 and their extragenic copy located telomeric to the FVIII gene. The goal of the present study was to analyze the presence of these mutations in 15 HA severe Costarrican families. Methods: We studied 122 unrelated HA patients and obligate or possible carriers for the presence of intron 22 or intron 1 by Southern blotting and polymerase chain reaction (PCR). Results: We found altered intron 22 restriction profiles by Southern analyses in 14 of the families, 12 cases type 1 (Figure 1) and 2 cases type 2 inversion. During the screening for intron 1 inversion among the HA patient, who were intron 22 inversion negative, we did not identified this mutation. Interpretation and Conclusions: This report is the first in our haemophilia families dealing with mutations in the intron 22 and intron 1. Our data highlight the importance of the analysis of intron 22 inversion for the association with development of inhibitors in the HA patients and we are continuous searching of intron 1 mutation. This will benefit both genetic counselling and the study of the relationship between genotype and inhibitor development. Fig. 1 Southern blot of HA-I showing the intron 22 inversion of the factor VIII gene. Lane 1 and 2 normal Lane 3: heterozygote carrier and lane 4: patient with the altered fragment, (inversion of the intron 22). Fig. 1. Southern blot of HA-I showing the intron 22 inversion of the factor VIII gene. Lane 1 and 2 normal Lane 3: heterozygote carrier and lane 4: patient with the altered fragment, (inversion of the intron 22).

Germ-line origin of intron 1 inversion in two haemophilia A families

Haemophilia ◽  
2003 ◽  
Vol 9 (6) ◽  
pp. 717-720 ◽  
Author(s):  
M. Acquila ◽  
M. Pasino ◽  
C. Santoro ◽  
T. Lanza ◽  
A. C. Molinari ◽  
...  
Keyword(s):  
Germ Line ◽  
Haemophilia A ◽  
Intron 1 ◽  
Intron 1 Inversion

scholarly journals Aberrant F8 gene intron 1 inversion with concomitant duplication and deletion in a severe hemophilia A patient from Southern Italy

2013 ◽  
Vol 11 (1) ◽  
pp. 195-197 ◽  
Author(s):  
V. SANNA ◽  
C. CEGLIA ◽  
M. TARSITANO ◽  
B. LOMBARDO ◽  
A. COPPOLA ◽  
...  
Keyword(s):  
Southern Italy ◽  
Hemophilia A ◽  
Severe Hemophilia ◽  
Intron 1 ◽  
Intron 1 Inversion

Prenatal diagnosis of haemophilia A by using intron 1 inversion detection

Haemophilia ◽  
2007 ◽  
Vol 13 (6) ◽  
pp. 772-774 ◽  
Author(s):  
R. SALVIATO ◽  
D. BELVINI ◽  
D. ZANOTTO ◽  
R. DI GAETANO ◽  
P. RADOSSI ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Haemophilia A ◽  
Intron 1 ◽  
Intron 1 Inversion

scholarly journals An aberrant F8 intron 1 inversion with concomitant large duplication and deletion in a Chinese severe hemophilia A patient

Hematology ◽  
2020 ◽  
Vol 26 (1) ◽  
pp. 53-57
Author(s):  
Xiong Wang ◽  
Hongmei Wang ◽  
Haowen Tan ◽  
Xiu-Ping Liu ◽  
Huijun Li
Keyword(s):  
Hemophilia A ◽  
Severe Hemophilia ◽  
Intron 1 ◽  
Intron 1 Inversion

scholarly journals Factor VIII-Intron 1 Inversion of Hemophilia A Patients In West Anatolia

2007 ◽  
Vol 10 (1) ◽  
pp. 49-50
Author(s):  
M Pehlivan ◽  
S Pehlivan ◽  
F Buyukkececi ◽  
S Çagirgan ◽  
M Yilmaz ◽  
...  
Keyword(s):  
Factor Viii ◽  
Hemophilia A ◽  
The West ◽  
Dna Analyses ◽  
Intron 1 ◽  
Life Threatening ◽  
Intron 1 Inversion

Factor VIII-Intron 1 Inversion of Hemophilia A Patients In West AnatoliaHemophilia A (HA) is a hereditary, life-threatening and disabling disorder. In this study, we have examined 61 unrelated HA patients in order to identify the incidence of the intron 1 factor VIII (FVIII) gene inversion in the West Anatolian population. According to the results of DNA analyses of the 61 HA patients, no intron 1 inversion of the FVIII gene was found.

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