The study of common mutation p.H1069Q in АТР7В gene in Russian WD-patients
https://doi.org/10.25557/2073-7998.2018.04.25-30
Abstract
The most common WD causing in the patients from Europe is p.H1069Q mutation. The results of study of p.H1069Q mutation in Russian patients and control group by using developed test-system are presented in this investigation. Querying the chromosomal haplotype of Russian patients with p.H1069Q mutation by two micro satellite markers showed a general haplotype which is suggestive of the founder’s effect.
About the Authors
G. M. Baiazutdinova
ФГБНУ «Медико-генетический научный центр»
Russian Federation
Russian Federation
O. A. Shchagina
ФГБНУ «Медико-генетический научный центр»
Russian Federation
Russian Federation
A. V. Poliakov
ФГБНУ «Медико-генетический научный центр»
Russian Federation
Russian Federation
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Review
For citations:
Baiazutdinova G.M., Shchagina O.A., Poliakov A.V. The study of common mutation p.H1069Q in АТР7В gene in Russian WD-patients. Medical Genetics. 2018;17(4):25-30. (In Russ.) https://doi.org/10.25557/2073-7998.2018.04.25-30
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