ORIGINAL RESEARCH

Detection of CFTR mutations in children with cystic fibrosis

About authors

1 DNA-Technology LLC, Moscow, Russia

2 Russian Children's Clinical Hospital,
Pirogov Russian National Medical Research University, Moscow

3 Laboratory of Molecular Genetic Methods,
Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Moscow

Correspondence should be addressed: Alena I. Nikiforova
Kashirskoe shosse 24, Moscow, 115478; ur.ygolonhcet-and@avorofikin

About paper

Conflict of interests: the study was conducted in collaboration with DNA-Technology staff.

Received: 2018-07-10 Accepted: 2018-08-03 Published online: 2018-08-23
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  1. Kerem B, Rommens JM, Buchanan JA, Markiewicz D, Cox TK, Chakravarti A, et al. Identification of the cystic fibrosis gene: genetic analysis. Science. 1989 Sep 8; 245 (4922): 1073–80.
  2. Dodge JA. A millennial view of cystic fibrosis. Dev Period Med. 2015 Jan–Mar; 19 (1): 9–13.
  3. Baranov AA, Kapranov NI, Kashirskaya NY, et al. Diagnostic Problems of Mucoviscidosis and Ways of Solution in Russia. Pediatric pharmacology. 2014; 11 (6): 16–23.
  4. Kondrateva EI, Krasovskij SA, Voronkova AJu, Amelina EL, Cherniak AV, Kashirskaja N. Ju., redaktory. Registr bol'nyh mukoviscidozom v Rossijskoj Federacii. 2015 god. M.: ID MEDPRAKTIKA-M; 2016. 72 s.
  5. Sherman VD, Kondrat'eva EI, Kashirskaja NJu, Kalinenkova SG, Kotalevskaja JuJu. Neonatal'nyj skrining na mukoviscidoz. Itogi 10 let. Vtoraja Vserossijskaja nauchno-prakticheskaja konferencija «Novye tehnologii diagnostiki nasledstvennyh boleznej» Moskva, 27–28 oktjabrja 2017 g.
  6. Kashirskaya NY, Krasovsky SA, Chernyak AV, Sherman VD, Voronkova AY, Shabalova LA, et al. Trends in Life Expectancy of Cystic Fibrosis Patients in Moscow and their Connection with the Treatment Received: Retrospective Analysis for 1993–2013 Current pediatrics. 2015; 14 (4): 503–8.
  7. Sherman VD, Kashirskaja NJu, Kapranov NI. Sovremennyj algoritm diagnostiki mukoviscidoza. Pediatrija. 2014; 93 (4).
  8. Stepanova AA, Krasovsky SA, and Polyakov AV. 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. Russian Journal of Genetics. 2016; 52 (2): 204–13.
  9. Simakova TS, Bragin AG, Glushkova MA, Petrova NV, Polyakov AV, Kondratieva EI, et al. The experience of application of target sequencing in molecular diagnostic of mucoviscidosis. Klinicheskaya Laboratornaya Diagnostika. 2017; 62 (5): 305–309.
  10. Stepanova AA, Polyakov AV, Abrukova AV, Savaskina EN. Mutation p.E92K is the primary cause of cystic fibrosis in Chuvashes Russian Journal of Genetics. 2012; 48 (7): 731–7.
  11. Petrova NV, Timkovskaya EE, Vasilyeva TA et al. Characteristics the spectrum of cftr mutations in Karachay-Cherkessia. Meditsinskaia genetika 2015; 14 (7): 32–6.
  12. Krasovsky SA, Chernyak AV, Kashirskaya N.Yu. et al. Cystic fibrosis in Russia: the creation of a national register. Pediatrics. 2014; 93 (4).
  13. Available from: http://seqdb.med-gen.ru/
  14. Kofiadi IA, Rebrikov DV. Methods for detecting single nucleotide polymorphisms: Allele-specific PCR and hybridization with oligonucleotide probe Russian Journal of Genetics. 2006; 42 (1): 16–26.
  15. Abramov DD, Kadochnikova VV, Yakimova EG, Belousova MV, Maerle AV, Sergeev IV et al. High carrier frequency of CFTR gene mutations associated with cystic fibrosis, and PAH gene mutations associated with phenylketonuria in Russian population. Bulletin of RSMU. 2015; (4): 32–5.
  16. Sergeev IV, Haitov MR, Trofimov DJu, Abramov DD, Grudakova EG, Goncharova EV, i dr. Razrabotka metodov dlja provedenija shirokomasshtabnyh issledovanij polimorfizma genov, regulirujushhih razlichnye komponenty immunnogo otveta. Fiziol i patol immun sistemy. 2009; 13 (4): 21–6.
  17. Available from: http://www.genet.sickkids.on.ca
  18. Available from: https://www.cftr2.org/
  19. Castellani C, Cuppens H, Macek M, et al. Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. J Cyst Fibros. 2008 May; 7 (3): 179–96.
  20. Shin S, Kim Y, Chul Oh S, Yu N, Lee ST, Rak Choi J, et al.Validation and optimization of the Ion Torrent S5 XL sequencer and Oncomine workflow for BRCA1 and BRCA2 genetic testing. Oncotarget. 2017 May 23; 8 (21): 34858–66.