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Spinal muscular atrophy carrier frequency in Ukraine

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Abstract

Background. Spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disorder with the frequency of carriers in a number of ethnical groups ranging from 1/50 to 1/25. However, the prevalence of SMA for population of Ukraine remains to be established. Methods. For the analysis of deletion in exon 7 SMN1 gene in SYBR Green Real-Time qPCR assay specific for the single nucleotide change in exon 7 (c.840 C>T) was used. Results. Using SYBR Green qPCR assay, the incidence of the exon 7 SMN1 deletion was established among 370 unrelated individuals without family history of SMA. The carrier frequency for this group of Ukrainians was estimated as 3.24% (1/31). Conclusions. The results of our study showing the high prevalence of carriers warrant the importance of population screening for SMA in Ukraine.

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Authors and Affiliations

  1. Department of Human Genomics, Institute of Molecular Biology and Genetics, National Academy of Sciences of Ukraine, Kiev, 03680, Ukraine

    O. Soloviov, N. Hryschenko & L. Livshits

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  1. O. Soloviov
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  2. N. Hryschenko
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  3. L. Livshits
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Corresponding author

Correspondence to L. Livshits.

Additional information

Published in Russian in Genetika, 2013, Vol. 49, No. 9, pp. 1126–1128.

The article was translated by the authors.

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Soloviov, O., Hryschenko, N. & Livshits, L. Spinal muscular atrophy carrier frequency in Ukraine. Russ J Genet 49, 982–983 (2013). https://doi.org/10.1134/S1022795413080140

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  • DOI: https://doi.org/10.1134/S1022795413080140

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