ISSN Print 2500–1094
ISSN Online 2542–1204
BIOMEDICAL JOURNAL OF PIROGOV UNIVERSITY (MOSCOW, RUSSIA)
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
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
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Melting curves representing different allelic variants generated by the mutation p.R408W\c.1222C>T. Curve 1 represents a homozygous variant; curve 2 represents a heterozygous variant (note the two peaks on the curves); curve 3 represents a homozygous wild type
Table 1. PAH mutations and their frequencies in the patients of Morozovskaya Children’s City Clinical hospital (n = 71)
Note. CAT is a catalytic domain; REG is a regulatory domain; ТЕТ is a tetramerization domain.
Table 2. Genotypes of the patients of Morozovskaya Children’s City Clinical hospital (n = 71)
Note. Х — unidentified pathogenic variant. * — according to BIOPKUdb [14].
