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. PavlovaRussian Federation
Pavlova Kyunna Konstantinovna - PhD, senior researcher
E. Tapyev
Russian Federation
Tapyev Evgeny – junior researcher
A. A. Petrova
Russian Federation
Petrova Aytalina Aleksandrovna - laboratory doctor
V. A. Zakharova
Russian Federation
Zakharova Valentina Arkadevna – junior researcher
S. K. Stepanova
Russian Federation
Svetlana Stepanova Kimovna – senior researcher
N. R. Maximova
Russian Federation
Maximova Nadezda Romanovna - MD, head of the laboratory
A. N. Nogovitsyna
Russian Federation
Nogovitsyna Anna Nikolaevna - PhD, senior researcher
A. L. Sukhomyasova
Russian Federation
Sukhomyasova Aytalina Lukichna – PhD, head of the laboratory
References
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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.