Spinal muscular atrophy carrier frequency in Ukraine

Spinal muscular atrophy carrier frequency in Ukraine 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. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Russian Journal of Genetics Springer Journals

Spinal muscular atrophy carrier frequency in Ukraine

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Publisher
Springer Journals
Copyright
Copyright © 2013 by Pleiades Publishing, Ltd.
Subject
Biomedicine; Human Genetics; Animal Genetics and Genomics; Microbial Genetics and Genomics
ISSN
1022-7954
eISSN
1608-3369
D.O.I.
10.1134/S1022795413080140
Publisher site
See Article on Publisher Site

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.

Journal

Russian Journal of Genetics – Springer Journals

Published: Sep 15, 2013

References

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