Updating Diagnostic Spectrum of Recurring CFTR Mutations
- 作者: Adyan T.1,2, Stepanova A.1, Krasovskiy S.1,3, Polyakov A.1
-
隶属关系:
- Research Centre of Medical Genetics
- Pirogov Russian National Research Medical University
- Pulmonology Research Institute of the Federal Biomedical Agency
- 期: 卷 54, 编号 10 (2018)
- 页面: 1235-1244
- 栏目: Human Genetics
- URL: https://journals.rcsi.science/1022-7954/article/view/188629
- DOI: https://doi.org/10.1134/S1022795418100022
- ID: 188629
如何引用文章
详细
Cystic fibrosis (CF) is a frequent hereditary disease widely observed in Europeans. A correlation of the mutation profile in the CFTR gene with the geographical location and ethnic origin represents an important peculiarity of this disease. In order to identify the most frequent mutations typical for Russian CF patients and create a highly informative diagnostic panel, an analysis of 40 CFTR mutations in a sample of CF patients from different regions of the Russian Federation was performed. The selection of mutations was based on the published data together with the data of the CF Registry of Russian Patients in 2014. The frequencies of analyzed mutations were distributed as follows: F508del (53.6%), E92K (6.6%), CFTRdele2,3(21kb) (5.3%), 1677delTA (3%), 3849+10kbC>T (2.8%), W1282X (2.3%), 2143delT (2.2%), N1303K (2.1%), 2184insA (1.8%), L138ins (1.8%), 3272-16T>A (1.3%), 394delTT (1.0%), G542X (1.0%), W1282R (0.9%), S466X (0.6%), R1066C (0.6%), 2789+5G>A (0.6%), R334W (0.5%), W1310X (0.5%), 1898+1G>A (0.4%), 4015delA (0.4%), S1196X (0.3%), S945L (0.3%), R347P (0.3%), and 1367del5 (0.3%); an additional nine mutations had a frequency less than 0.1%, and the remaining six were unobserved. The total frequency of 40 examined mutations was 91.8%.
作者简介
T. Adyan
Research Centre of Medical Genetics; Pirogov Russian National Research Medical University
编辑信件的主要联系方式.
Email: tagui.adyan@yandex.ru
俄罗斯联邦, Moscow, 115478; Moscow, 117997
A. Stepanova
Research Centre of Medical Genetics
Email: tagui.adyan@yandex.ru
俄罗斯联邦, Moscow, 115478
S. Krasovskiy
Research Centre of Medical Genetics; Pulmonology Research Institute of the Federal Biomedical Agency
Email: tagui.adyan@yandex.ru
俄罗斯联邦, Moscow, 115478; Moscow, 105077
A. Polyakov
Research Centre of Medical Genetics
Email: tagui.adyan@yandex.ru
俄罗斯联邦, Moscow, 115478