توالی یابی نسل جدید (NGS) روشی برای شناسایی جهش های ژنتیکی مرتبط با اختلال اسپینابیفیدا

Background and Objective: Spina Bifida (SB) is a congenital malformation and is a result of the failure of the closure and failure of the neural tube. The causes and mechanisms of genetic involvement involved in the onset of SB are still ambiguous. The present study addresses the genetic variation in SB disease using Next Generation Sequencing (NGS) as a powerful molecular tool for comprehensive genetic disorders studies. Materials and Methods: Three complete blood samples from people with spina bifida were investigated after DNA extraction using NGS-whole exome sequencing (NGS-WES) method and after comparing the obtained data with the control sample. The results were analyzed using Alignment software (bwa), variant calling (gatk4) and Annotation (wannovar) with the version of the Hg19 genome. Results: Out of 559087 mutations, there are 1205 mutations of the type INDELs and 557882 mutations associated with SNPs. This number of mutations was compared with control samples and patients with SB. Further studies ultimately identified the genes of PAX3, CUBN, MTHFR and PDGFRA as more effective genes in the disease. Conclusion: The NGS is a powerful method for the genetic evaluation of patients with SB that can help detect genetic disorders in these patients. Gene mutations found have all occurred in genes that are associated with evolution in the nervous system during the fetal period. These mutations should be confirmed by valid molecular methods.