Reliability of the search for 19 common mutations in the CFTR gene in Russian cystic fibrosis patients and the calculated frequency of the disease in Russian Federation

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作者：A. A. Stepanova ; S. A. Krasovsky ; A. V. Polyakov
关键词：cystic fibrosis ; CFTR gene ; frequent mutations ; cystic fibrosis carriage ; cystic fibrosis frequency
刊名：Russian Journal of Genetics
出版年：2016
出版时间：February 2016
年：2016
卷：52
期：2
页码：204-213
全文大小：256 KB
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作者单位：A. A. Stepanova (1)
S. A. Krasovsky (2)
A. V. Polyakov (1)

1. Medical Genetic Research Center, Moscow, 115478, Russia
2. Research Institute of Pulmonology, Moscow, 105077, Russia

刊物类别：Biomedical and Life Sciences

刊物主题：Biomedicine
Human Genetics
Animal Genetics and Genomics
Microbial Genetics and Genomics
Russian Library of Science

出版者：MAIK Nauka/Interperiodica distributed exclusively by Springer Science+Business Media LLC.

ISSN：1608-3369

文摘

A study of Russian cystic fibrosis (CF) patient DNA was conducted to assess the incidence frequency of 19 mutations, namely CFTRdele2,3(21kb), F508del, I507del, 1677delTA, 2143delT, 2184insA, 394delTT, 3821delT, L138ins, 604insA, 3944delGT, G542X, W1282X, N1303K, R334W, and 3849 + 10kbC > T, S1196X, 621 + 1g > t, and E92K of the CFTR gene. We also sought to determine the estimated CF frequency in Russian Federation. In addition, we determined the total information content of the approach for 19 common mutations registration in the CFTR gene, 84.6%, and the allelic frequencies of the examined mutations: three mutations were observed with a frequency exceeding 5% (F508del, 53.98%, E92K, 6.47%, CFTRdele2,3(21kb), 5.35%); other mutations were observed with frequencies ranging from 0.13 to 3.0%. The CF population carrier frequency was 1 in 38 subjects, while the predicted CF frequency was 1 in 5776 newborns.