title: [Spinal muscular atrophy carrier frequency in Ukraine].
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 (cd 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.
authors.forename: A A
authors.initials: AA
authors.lastname: Solov'ev
authors.forename: N V
authors.initials: NV
authors.lastname: Grishchenko
authors.forename: L A
authors.initials: LA
authors.lastname: Livshits
mesh_terms: D005091:Exons; D006579:Heterozygote; D006801:Humans; D009134:Muscular Atrophy, Spinal / Q000235:genetics*; D017384:Sequence Deletion; D055533:Survival of Motor Neuron 1 Protein / Q000235:genetics*; D014455:Ukraine
chemical_list: C526471:SMN1 protein, human; D055533:Survival of Motor Neuron 1 Protein