Neonatal Screening for Cystic Fibrosis in Republic Sakha (Yakutia)
Abstract
Neonatal screening for cystic fibrosis involves early presymptomatic diagnosis of the disease in newborns. The aim of the study was to determine the effectiveness of neonatal screening for cystic fibrosis in the Republic Sakha (Yakutia). The results of neonatal screening, sweat samples and molecular genetic testing of DNA samples from 126 newborns hypertripsinogenemia (level of immunoreactive trypsin in the first test – IRT>70 ng/ml) and 120 patients to the most common gene mutation CFTR. Mutations were found in 17 individuals (11 - heterozygotes, 6 - homozygotes).
About the Authors
K. K. Pavlova
Federal State Institution of the Russian Academy of Medical Sciences Yakut Scientific Center of complex medical problems, Siberian Branch of RAMS; State Budget Institution Sakha (Yakutia) Republic hospital №-1 - National Medical Center Perinatal Center genetic counseling
Russian Federation
Russian Federation
Pavlova Kyunna Konstantinovna - PhD, senior researcher
E. Tapyev
Federal State Institution of the Russian Academy of Medical Sciences Yakut Scientific Center of complex medical problems, Siberian Branch of RAMS; State Budget Institution Sakha (Yakutia) Republic hospital №-1 - National Medical Center Perinatal Center genetic counseling
Russian Federation
Russian Federation
Tapyev Evgeny – junior researcher
A. A. Petrova
Federal State Institution of the Russian Academy of Medical Sciences Yakut Scientific Center of complex medical problems, Siberian Branch of RAMS; State Budget Institution Sakha (Yakutia) Republic hospital №-1 - National Medical Center Perinatal Center genetic counseling
Russian Federation
Russian Federation
Petrova Aytalina Aleksandrovna - laboratory doctor
V. A. Zakharova
Federal State Institution of the Russian Academy of Medical Sciences Yakut Scientific Center of complex medical problems, Siberian Branch of RAMS; State Budget Institution Sakha (Yakutia) Republic hospital №-1 - National Medical Center Perinatal Center genetic counseling
Russian Federation
Russian Federation
Zakharova Valentina Arkadevna – junior researcher
S. K. Stepanova
Federal State Institution of the Russian Academy of Medical Sciences Yakut Scientific Center of complex medical problems, Siberian Branch of RAMS; State Budget Institution Sakha (Yakutia) Republic hospital №-1 - National Medical Center Perinatal Center genetic counseling
Russian Federation
Russian Federation
Svetlana Stepanova Kimovna – senior researcher
N. R. Maximova
Federal State Institution of the Russian Academy of Medical Sciences Yakut Scientific Center of complex medical problems, Siberian Branch of RAMS; State Budget Institution Sakha (Yakutia) Republic hospital №-1 - National Medical Center Perinatal Center genetic counseling
Russian Federation
Russian Federation
Maximova Nadezda Romanovna - MD, head of the laboratory
A. N. Nogovitsyna
Federal State Institution of the Russian Academy of Medical Sciences Yakut Scientific Center of complex medical problems, Siberian Branch of RAMS; State Budget Institution Sakha (Yakutia) Republic hospital №-1 - National Medical Center Perinatal Center genetic counseling
Russian Federation
Russian Federation
Nogovitsyna Anna Nikolaevna - PhD, senior researcher
A. L. Sukhomyasova
Federal State Institution of the Russian Academy of Medical Sciences Yakut Scientific Center of complex medical problems, Siberian Branch of RAMS; State Budget Institution Sakha (Yakutia) Republic hospital №-1 - National Medical Center Perinatal Center genetic counseling
Russian Federation
Russian Federation
Sukhomyasova Aytalina Lukichna – PhD, head of the laboratory
References
1. Kapranov N.I. Cystic fibrosis (modern achievements and challenges) / edited by N.I. Kapranov, N.Y. Kashirskaia. - M. - 2005. – 104 p.
2. Prospects for early diagnosis and appropriate treatment of children with cystic fibrosis in RF / N.I. Kapranov, N.Y. Kashirskaia, V.D. Sherman // Cystic fibrosis in adults and children: Proceedings of the IX National Congress of Cystic Fibrosis. - 2009. - P.7-12.
3. Petrova N.V. Molecular genetic features of cystic fibrosis in the Russian populations / N.V. Petrova // Medical Genetics. - 2006. - V.5. - Appendix 1. - P.19-24.
4. Petrova N.V. Molecular genetic, clinical and genotypic characteristics of cystic fibrosis in the Russian populations: Author. dis. dr. biol. science / N.V. Petrova. - M., 2009. – 42 p.
5. Association between genetically determined pancreatic status and lung disease in adult cystic fibrosis patients / Y. Loubieres [et al.] // CHEST. – 2002. - Vol. 121, N 1. – P. 73-80.
6. CFTR genotype as a predictor of prognosis in cystic fibrosis / E.F. McKone [et al.] // Chest. – 2006. – Vol. 130, N5. – P. 1441-1447.
Review
For citations:
Pavlova K.K., Tapyev E., Petrova A.A., Zakharova V.A., Stepanova S.K., Maximova N.R., Nogovitsyna A.N., Sukhomyasova A.L. Neonatal Screening for Cystic Fibrosis in Republic Sakha (Yakutia). Yakut Medical Journal. 2014;(2):56-58.
Views:
5
Email this article 