ISSN Print 2500–1094
ISSN Online 2542–1204
Bulletin of RSMU
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].
