[Spinal muscular atrophy carrier frequency in Ukraine]

Area of Science:

• Genetics
• Neuromuscular Disorders
• Epidemiology

Context:

• Spinal muscular atrophy (SMA) is a frequent autosomal recessive neuromuscular disorder.
• Carrier frequency varies across ethnic groups, but remains unestablished for Ukraine's population.

Purpose:

• To determine the prevalence of SMA carriers in Ukraine.
• To establish the carrier frequency of the SMN1 gene deletion in the Ukrainian population.

Summary:

• A SYBR Green Real-Time qPCR assay was used to analyze SMN1 gene deletions in 370 unrelated Ukrainian individuals.
• The carrier frequency for the exon 7 SMN1 deletion was found to be 3.24% (1/31) in the studied Ukrainian cohort.

Impact:

• The high carrier prevalence in Ukraine underscores the necessity of implementing population-based screening programs for SMA.
• Early identification of carriers can facilitate genetic counseling and reproductive planning, potentially reducing the incidence of SMA.