A Study of The Spinal Muscular Atrophy Cohorts in The Eastern Anatolia Region of Türkiye.

Objective: The purpose of this research is to carry out a genetic cohort study of SMA patients in the Eastern Anatolia region of Turkey, investigating the genetic causes of the illness, specifically the impact of the number of SMN1 and SMN2 gene alleles on the course of the disease. Methods: The Erzurum Medical Faculty of Health Sciences at Erzurum City Hospital gave ethical approval for the study to be conducted. A total of 348 patients with an initial diagnosis of SMA underwent genetic testing. Using the PCR-RFLP approach, deletions of exons 7 and 8 in the SMN1 and SMN2 genes were examined. Results: In examining the allele counts in the exon 7 and exon 8 regions of the SMN1 and SMN2 genes, 41 patients were found to have no copies of the SMN1 gene (0 alleles), while 112 people were identified as possible carriers. Analysis of the SMN2 gene's allele distribution revealed a substantial relationship between the number of alleles and the clinical severity of the disease. Conclusion: The number of alleles in the SMN1 and SMN2 genes influences the course of the disease, as demonstrated by the genetic cohort analysis of SMA patients in the Eastern Anatolia region of Turkey presented in this paper. The findings indicate that sex does not influence the frequency of the disease or carrier status, offering significant new insights into the genetic diagnosis and treatment of SMA. The study also emphasizes the importance of establishing local genetic screening programs and counseling services to facilitate early diagnosis and treatment. [ABSTRACT FROM AUTHOR]