- Determination of total carrier frequency of mutation of 35delG gene in the connexin-26 gene among newborns of Dnipropetrovsk and Zaporizhzhia regions
Determination of total carrier frequency of mutation of 35delG gene in the connexin-26 gene among newborns of Dnipropetrovsk and Zaporizhzhia regions
SOVREMENNAYA PEDIATRIYA. 2015.1(65):130-134; doi 10.15574/SP.2015.65.130
Determination of total carrier frequency of mutation of 35delG gene in the connexin-26 gene among newborns of Dnipropetrovsk and Zaporizhzhia regions
Veropotvelyan N. P., Pogulyai Yu. S., Zhuravleva S. A., Shutenko T. V.
RKI «Interregional Center of Medical Genetics and Prenatal Diagnosis», Kryvyi Rig, Ukraine
Objective. To determine the population of the carrier frequency of mutation of 35delG gene GJB2 among newborns of Dnipropetrovsk and Zaporizhzhia regions.
Patients and methods. For molecular and genetic study were selected 193 somatically healthy newborns. The materials for the study were dry blood stains. DNA purification was done by PureLink genomic DNA Kits (Invitrogene, USA), Diatom DNA Prep 100 («Izogen», Russia) and NeoPrep DNA Magnet («Neogene», Ukraine). For determination of mutation 35delG gene GJB2 was used test system produced by «Neogen», based on conduction of allele-specific reactions in two separate tubes. Gene aў-1-antitrypsin was used as the reference gene. Detection of amplification products was performed with the use of 2% agarose gel.
Results. Carrier of mutation of 35delG gene GJB2 (heterozygous state) was found in 4.1% of newborns. This indicates that among newborns of two regions carrier of this mutation are every 23-25 (taking into account possible error sample proportion of 0.24%). The frequency of abnormal genotype 35delG/35delG among newborns should be 1:1923.
Conclusions. It is necessary to introduce examination of couples with the aim of indication of carrier mutation 35delG GJB2 at pregnancy planning to prevent the birth of children with inherited forms of hearing impairment and also prenatal diagnosis for timely correction of hearing in case of maintenance of pregnancy.
Key words: sensorineural deafness, connexin-26, newborns.
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