Genetic Testing for Hereditary Diseases with Autosomal -Recessive Type of Inheritance in the Republic of Sakha (Yakutia)
Abstract
Prevalence of some autosomal - recessive diseases in the Republic of Sakha (Yakutia) for genetic testing has been estimated. Among the Yakuts no widespread monogenic diseases such as phenilketonuria and mucoviscidos have been noted. However, there was accumulation of such rare syndromes as 3M and methhemoglobinemia type 1 with major mutation. To decrease a rate of the monogenic diseases in the republic genetic testing system of autosomal-recessive diseases has been elaborated.
About the Authors
A. N. Nogovitsyna
YSC CMP SDRAMS and MGC RB№1-NCM
Russian Federation
Russian Federation
Nogovitsyna Anna Nikolaevna – Cand.med. sciences, senior researcher, a doctor geneticist of MGC
N. L. Sukhomyasova
YSC CMP SDRAMS and MGC RB№1-NCM
Russian Federation
Russian Federation
Sukhomyasova Aytalina Lukichna – Cand.med. sciences, Head of lab., Head of MGC
N. R. Maximova
YSC CMP SDRAMS and MGC RB№1-NCM
Russian Federation
Russian Federation
Maximova Nadezhda Romanovna – MD, Head of lab., Head of lab. MI NEFU named after M. K. Ammosov
S. K. Stepanov
YSC CMP SDRAMS and MGC RB№1-NCM
Russian Federation
Russian Federation
Stepanov Svetlana Kimovna – senior researcher, a biologist-laboratory assistant of MGC
V. A. Zakharova
YSC CMP SDRAMS and MGC RB№1-NCM
Russian Federation
Russian Federation
Zakharova Valentina Arkadyevna –j.r.s., a laboratory doctor
K. K. Pavlova
YSC CMP SDRAMS and MGC RB№1-NCM
Russian Federation
Russian Federation
Pavlova Kyunna Konstantinovna – Cand. med. Sciences, s.r.s., a laboratory doctor
E. V. Tapyev
YSC CMP SDRAMS and MGC RB№1-NCM
Russian Federation
Russian Federation
Tapyev Evgeny Viktorovich –j.r.s., a laboratory doctor
E. E. Gurinova
YSC CMP SDRAMS and MGC RB№1-NCM
Russian Federation
Russian Federation
Gurinova Elizaveta Egorovna – research assistant, a doctor geneticist
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Review
For citations:
Nogovitsyna A.N., Sukhomyasova N.L., Maximova N.R., Stepanov S.K., Zakharova V.A., Pavlova K.K., Tapyev E.V., Gurinova E.E. Genetic Testing for Hereditary Diseases with Autosomal -Recessive Type of Inheritance in the Republic of Sakha (Yakutia). Yakut Medical Journal. 2014;(2):40-44.
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