DNA diagnostics in Russian hemophilia patients with new medical technology «Detection system for F8 Intron 22 inversion»
https://doi.org/10.1234/XXXX-XXXX-2016-3-23-29
Abstract
Hemophilia A (HA) is a frequent X-linked recessive bleeding disorder resulted from deficiency or dysfunction of coagulation factor VIII (FVIII). It affects 1 of 5000 males. HA is caused by mutations in F8 gene located on chromosome Xq28 and consisted of 26 exons. More than 3000 mutations were described in the gene. The most common mutation is the intron 22 inversion (Inv22). It was found in 30-50% patients with severe HA. In this study we searched Inv22 in unrelated probands with diagnosis «Hemophilia» (40 patients) and relatives of probands whose material was not available (33 persons) from 73 Russian families using inverse shifting-PCR method. Inv22 was found in 33% cases. Mothers of probands with detected Inv22 were carriers of this mutation. Among the four probands with clinical diagnosis «hemophilia B» from the studied group Inv22 was found in one case.
About the Authors
T. S. Beskorovainaya
Federal State Budgetary Institution «Research Centre for Medical Genetics»
Russian Federation
Russian Federation
T. B. Milovidova
Federal State Budgetary Institution «Research Centre for Medical Genetics»
Russian Federation
Russian Federation
O. A. Shchagina
Federal State Budgetary Institution «Research Centre for Medical Genetics»
Russian Federation
Russian Federation
A. V. Polyakov
Federal State Budgetary Institution «Research Centre for Medical Genetics»
Russian Federation
Russian Federation
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Review
For citations:
Beskorovainaya T.S., Milovidova T.B., Shchagina O.A., Polyakov A.V. DNA diagnostics in Russian hemophilia patients with new medical technology «Detection system for F8 Intron 22 inversion». Medical Genetics. 2016;15(3):23-29. (In Russ.) https://doi.org/10.1234/XXXX-XXXX-2016-3-23-29
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