SKEWED X-CHROMOSOME INACTIVATION IN HETEROZYGOUS FEMALE WITH MODERATE HEMOPHILIA A
T. S. Beskorovainaya,
A. V. Abrukova,
O. L. Mironovich,
E. A. Bliznets,
T. B. Milovidova,
O. A. Shchagina,
E. N. Savaskina,
A. V. Polyakov https://doi.org/10.25837/HAT.2018.79..2..009
Abstract
This molecular genetic study of a girl with moderate hemophilia A is the first Russian report describing the cause of hemophilia in a female patient. The proband’s father suffers from severe hemophilia A and has a common F8 gene mutation, specifically an inversion of intron 22 (Inv22). Along with the Inv22 mutation inherited from her father, the girl was also found to be heterozygous for three benign mutations in the F8 gene: с.1010-27G>A, c.3780C>G (p.D1260E), and c.3864A>C (p.S1288=). A dramatically skewed X-chromosome inactivation was detected in the proband’s blood and buccal epithelium samples (95:5% and 85:15% respectively). The maternal X-chromosome was selectively inactivated. The paternal X-chromosome with the mutant F8 gene remained active, and thus caused hemophilia A in a heterozygous female.
About the Authors
T. S. Beskorovainaya
Research Centre for Medical Genetics
Russian Federation
Beskorovainaya Tatiana S., MD, PhD, researcher, DNA diagnostics laboratory, Research Centre for Medical Genetics,
Moscow, 115478
Russian Federation
Beskorovainaya Tatiana S., MD, PhD, researcher, DNA diagnostics laboratory, Research Centre for Medical Genetics,
Moscow, 115478
A. V. Abrukova
Presidential perinatal centre, Cheboksary, Chuvash Republic
Russian Federation
Russian Federation
O. L. Mironovich
Research Centre for Medical Genetics, Moscow
Russian Federation
Russian Federation
E. A. Bliznets
Research Centre for Medical Genetics, Moscow
Russian Federation
Russian Federation
T. B. Milovidova
Research Centre for Medical Genetics, Moscow
Russian Federation
Russian Federation
O. A. Shchagina
Research Centre for Medical Genetics, Moscow
Russian Federation
Russian Federation
E. N. Savaskina
Presidential perinatal centre, Cheboksary, Chuvash Republic
Russian Federation
Russian Federation
A. V. Polyakov
Research Centre for Medical Genetics, Moscow
Russian Federation
Russian Federation
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Review
For citations:
Beskorovainaya T.S., Abrukova A.V., Mironovich O.L., Bliznets E.A., Milovidova T.B., Shchagina O.A., Savaskina E.N., Polyakov A.V. SKEWED X-CHROMOSOME INACTIVATION IN HETEROZYGOUS FEMALE WITH MODERATE HEMOPHILIA A. Russian journal of hematology and transfusiology. 2018;63(2):184-190. (In Russ.) https://doi.org/10.25837/HAT.2018.79..2..009
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