2017 / 04

Next Paper
DOI: 10.24075/brsmu.2017-04-07

ORIGINAL RESEARCH

Determining the frequency of PAH mutations in Moscow region residents with phenylketonuria using a combination of real-time PCR and next-generation sequencing

Nikiforova AI1, Abramov DD1, Kadochnikova VV1, Zobkova GU1, Ogurtsova KA2, Brjuhanova NO2, Shestopalova EA2, Kochetkova TO3, Shubina ES, Donnikov AE1, Trofimov DYu1
About authors

1 DNA-Technology LLC, Moscow, Russia

2 Morozov Children's Municipal Clinical Hospital, Moscow, Russia

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, d. 24, Moscow, Russia, 115478; ur.ygolonhcet-and@avorofikin

About paper

Contribution of the authors to this work: Nikiforova AI — research planning, next-generation sequencing, data analysis and interpretation, drafting and editing of a manuscript; Abramov DD — research planning, development of the diagnostic panel, data analysis and interpretation, editing of a manuscript; Kadochnikova VV — polymerase chain reaction, data analysis; Zobkova GYu — analysis of literature, data interpretation, editing of a manuscript; Ogurtsova KA, Brjuhanova NO — data collection and analysis; Shestopalova EA — research planning, data collection and analysis, editing of a manuscript; Kochetkova TO — next-generation sequencing, data analysis; Shubina ES — bioinformatic analysis, editing of a manuscript; Donnikov AE — research planning, data interpretation, editing of a manuscript; Trofimov DYu — research planning, conception and design of next-generation sequencing.

Received: 2017-08-07 Accepted: 2017-08-16 Published online: 2017-10-30
|
  1. Klinicheskie rekomendatsii po diagnostike i lecheniyu fenilketonurii i narusheniy obmena tetragidrobiopterina. Moscow: Akademizdat; 2014. 70 p. Russian.
  2. Bushuyeva TV. [Phenylketonuria in children: diagnostics, clinic, treatment]. Voprosy sovremennoy pediatrii. 2010; 9 (1): 157–60. Russian.
  3. Baturina OA, Tupikin AE, Lukjanova TV, Sosnitskaya SV, Morozov IV. PAH and QDPR Deficiency Associated Mutations in the Novosibirsk Region of the Russian Federation: Correlation of Mutation Type with Disease Manifestation and Severity. J Med Biochem. 2014; 33 (4): 333–40.
  4. Blau N, Shen N, Carducci C. Molecular genetics and diagnosis of phenylketonuria: state of the art. Expert Rev Mol Diagn. 2014 Jul; 14 (6): 655–71.
  5. Zschocke J. Phenylketonuria mutations in Europe. Hum Mutat. 2003 Apr; 21 (4): 345–56.
  6. Amelina MA, Zinchenko RA, Stepanova AA, Gundorova P, Polyakov AV, Amelina SS. [Examine the relationship genotypes (PAH) and phenotype in patients with phenylketonuria Rostov region]. Meditsinskaya genetika. 2016; 15 (6): 3–10. Russian.
  7. Kasimov DA, Sikora NV, Checheva NN. [Incidence and structure of phenylketonuria in children of Khabarovsk territory]. Zdravookhranenie Dal'nego Vostoka. 2014; 3 (61): 26–8. Russian.
  8. Anichkina AA, Gavriliuc AP, Tverskaya SM, Polyakov AV. [Analysis of most prevalent mutations of PAH gene in phenilketonuria patients]. Meditsinskaya genetika. 2003; 2 (4): 175–81. Russian.
  9. Gundorova P, Stepanova AA, Bushueva TV, Belyashova EYu, Zinchenko RA, Amelina SS, et al. Genotyping of Patients with Phenylketonuria from Different Regions of Russia for Determining BH4 Responsiveness. Russ J Genet. 2017; 53 (6): 712–8.
  10. 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. Russian.
  11. Baturina OA, Bondar AA, Tupikin AE, Zhabin SG, Morozov IV. Analysis of phenylalanine hydroxylase gene mutations in phenylketonuria patients from Kemerovo oblast and the Sakha Republic. Cytol Genet. 2012 Jul; 46 (4): 227–32. DOI: 10.3103/S0095452712040032.
  12. Kofiadi IA, Rebrikov DV. Methods for detecting single nucleotide polymorphisms: Allele-specific PCR and hybridization with oligonucleotide probe. Russ J Genet. 2006 Jan; 42 (1): 16–26.
  13. Sergeev IV, Khaitov MR, Trofimov DYu, Abramov DD, Grudakova EG, Goncharova EV, et al. Razrabotka metodov dlya provedeniya shirokomasshtabnykh issledovaniy polimorfizma genov, reguliruyushchikh razlichnye komponenty immunnogo otveta. Fiziologiya i patologiya immunnoy sistemy. 2009; 13 (4): 21–6. Russian.
  14. Blau N, Yue W, Perez B, database managers. PAHvdb: Phenylalanine Hydroxylase Gene Locus-Specific Database [Internet]. [cited 2017 Aug 14]. Available from: http://www.biopku.org/pah/home.asp
  15. Amelina MA, Stepanova AA, Polyakov AV, Amelina SS, Zinchenko RA. [Spectrum and frequency of mutations in RAH gene in patients with phenylketonuria from Rostov region]. Meditsinskaya genetika. 2015; 14 (8): 30–6. Russian.
  16. Gundorova P, Stepanova AA, Makaov AKh, Zinchenko RA, Abaykhanova ZM, Polyakov AV. Mutation spectrum of the PAH gene in phenylketonuria patients in the Karachay-Cherkess Republic (Russia). Russ J Genet. 2016; 52 (12): 1282–90.
  17. Zinchenko LN, Matulevich SA, Kucher AN. [Territorial and ethnic specificity of mutations in a gene phenylalanin-hydroxilase in Krasnodar territory]. Kubanskiy nauchnyy meditsinskiy vestnik. 2006; (3–4): 39–42. Russian.
  18. Guldberg P, Henriksen KF, Güttler F. Molecular analysis of phenylketonuria in Denmark: 99 % of the mutations detected by denaturing gradient gel electrophoresis. Genomics. 1993 Jul; 17 (1): 141–6.
  19. Liu N, Kong XD, Zhao DH, Wu QH, Li XL, Guo HF, et al. Prenatal diagnosis of Chinese families with phenylketonuria. Genet Mol Res. 2015 Nov 19; 14 (4): 14615–28.
  20. Kuzmin AI, Eisensmith RC, Goltsov AA, Sergeeva NA, Schwartz EI, Woo SL. Complete spectrum of PAH mutations in Tataria: presence of Slavic, Turkic and Scandinavian mutations. Eur J Hum Genet. 1995; 3 (4): 246–55.
  21. Li J, Eisensmith RC, Wang T, Lo WH, Huang SZ, Zeng YT, et al. Identification of three novel missense PKU mutations among Chinese. Genomics. 1992 Jul; 13 (3): 894–5.
  22. Zekanowski C, Cabalska B, Borsuk P, Bal J. Mutations of the phenylalanine hydroxylase gene in mild hyperphenylalaninemia: a novel mutation in exon 3. Hum Mutat. 1997; 10 (3): 258–9.
  23. Eigel A, Dworniczak B, Kalaydjieva L, Horst J. A frameshift mutation in exon 2 of the phenylalanine hydroxylase gene linked to RFLP haplotype 1. Hum Genet. 1991 Oct; 87 (6): 739–41.
  24. Lichter-Konecki U, Konecki DS, DiLella AG, Brayton K, Marvit J, Hahn TM, et al. Phenylalanine hydroxylase deficiency caused by a single base substitution in an exon of the human phenylalanine hydroxylase gene. Biochemistry. 1988 Apr 19; 27 (8): 2881–5.
  25. Pérez B, Desviat LR, Ugarte M. Analysis of the phenylalanine hydroxylase gene in the Spanish population: mutation profile and association with intragenic polymorphic markers. Am J Hum Genet. 1997 Jan; 60 (1): 95–102.
  26. Song F, Qu YJ, Yang YL, Jin YW, Zhang YM, Wang H, et al. [The mutant spectrum of phenylalanine hydroxylase gene in Northern Chinese]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2007 Jun; 24 (3): 241–6. Chinese.