Carrier frequency of spinal muscular atrophy in Turkish population

Objective: The aim of this retrospective cohort study is to evaluate the carrier frequency spinal muscular atrophy (SMA) among pregnant women and their partners admitted our clinic for routine pregnancy follow-up. Methods: included who were informed about SMA disease screening at first trimester accepted undergo SMA. Carrier was carried out using DNA extracted from peripheral blood with a quantitative real-time polymerase chain reaction (qPCR) assay targeting recurrent SMN1 exon 7-8 gene deletion. data analyzed by SPPS version 15.0 statistical software package. Descriptive analyses out. Fisher’s exact test used intergroup comparisons. Results: total 250 subjects, whom 182 female 68 male. deletion 3.6% (9/250) (95% CI: 1.66–5.54) in entire population, 1/27.8. Of participants, 6 had deletion, 3.3% 1.3–6.2). male 3 4.4% 0.35–9.4). There no significant difference between participants terms SMN 1 frequencies (p=0.712). duplication 8% 5.18–10.8) all gender. Conclusion: results demonstrated 1/27.7 Turkish which higher than many other countries. will be useful genetic counseling