1. A full molecular picture of F8 intron 1 inversion created with optical genome mapping.
- Author
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Fahiminiya, Somayyeh, Rivard, Georges‐Etienne, Scott, Patrick, Montpetit, Alexandre, Bacot, François, St‐Louis, Jean, Mitchell, Grant A., Foulkes, William D., Soucy, Jean‐Francois, and Gauthier, Julie
- Subjects
GENE mapping ,MOLECULAR diagnosis ,BLOOD coagulation factor VIII antibodies ,BLOOD coagulation factor VIII ,VON Willebrand disease ,GENETIC variation ,FLUORESCENCE in situ hybridization - Abstract
Haemophilia A, an X-linked recessive bleeding disorder affecting 1 in 5000 male new-borns, is caused by the impaired activity of clotting factor VIII (FVIII) due to deleterious variants in the I F8 i gene. Inverse-shifting PCR (IS-PCR)8 was performed in parallel on DNA from this family, confirming inv1 in the subject and in the severely affected uncle confirming the carrier status of his mother and thus establishing the molecular basis of severe haemophilia A in this family. [Extracted from the article]
- Published
- 2021
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