Search for mutations in the COL1A1 gene in patients with osteogenesis imperfecta from the Republic Sakha (Yakutia)
Abstract
DNA sequencing of 51 exons and exon-intron junctions in COL1A1 gene in patients with osteogenesis imperfecta from Yakutia was performed. Two different mutations: mutations shifting the reading frame c.3540_3541insC (p.Gly1181AlafsX38) are identified in a patient of Yakut ethnicity and splicing site mutation c.4005 +1 G> T in patient of Russian ethnic origin. Mutation c.3540_3541insC (p.Gly1181AlafsX38) hasn’t been described early. Mutations lead to a clinical 1 type of osteogenesis imperfecta, identified in heterozygous state and are unique to each family.
About the Authors
R. I. Khusainova
Institute of Biochemistry and Genetics, Ufa Science;
Bashkir State University
Russian Federation
Russian Federation
Ufa, Prospekt Oktyabrya, 71;
Ufa, Zaki Validy, 32
D. D. Nadyrshina
Institute of Biochemistry and Genetics, Ufa Science;
Bashkir State University
Russian Federation
Russian Federation
Ufa, Prospekt Oktyabrya, 71;
Ufa, Zaki Validy, 32
I. R. Gilyazova
Institute of Biochemistry and Genetics, Ufa Science
Russian Federation
Russian Federation
Ufa, Prospekt Oktyabrya, 71
S. P. Alekseeva
Medical Genetic Consulting Clinic of Republican Hospital №1 of Sakha Republic (Yakutia)"
Russian Federation
Russian Federation
Yakutsk, Sergelyakhskoe Shosse, 4
A. N. Nogovitsyna
Medical Genetic Consulting Clinic of Republican Hospital №1 of Sakha Republic (Yakutia)";
Yakut Scientific Center of Complex Medical Problems of RAMS
Russian Federation
Russian Federation
Yakutsk, Sergelyakhskoe Shosse, 4
A. L. Sukhomyasova
Medical Genetic Consulting Clinic of Republican Hospital №1 of Sakha Republic (Yakutia)";
Yakut Scientific Center of Complex Medical Problems of RAMS
Russian Federation
Russian Federation
Yakutsk, Sergelyakhskoe Shosse, 4
S. A. Fedorova
Yakut Scientific Center of Complex Medical Problems of RAMS;
North-Eastern Federal University of Maksim Ammosov
Russian Federation
Russian Federation
Yakutsk, Sergelyakhskoe Shosse, 4
E. K. Khusnutdinova
Institute of Biochemistry and Genetics, Ufa Science;
Bashkir State University
Russian Federation
Russian Federation
Ufa, Prospekt Oktyabrya, 71;
Ufa, Zaki Validy, 32
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Review
For citations:
Khusainova R.I., Nadyrshina D.D., Gilyazova I.R., Alekseeva S.P., Nogovitsyna A.N., Sukhomyasova A.L., Fedorova S.A., Khusnutdinova E.K. Search for mutations in the COL1A1 gene in patients with osteogenesis imperfecta from the Republic Sakha (Yakutia). Yakut Medical Journal. 2012;(3):39-41.
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