Using Digital Droplet PCR (ddPCR) for the Detection of SMN1 Gene Deletion in Low-Concentration Fragmented Cell-Free DNA
Project no. 32249 · Status: Kapanmış (Yayın bekleniyor) · 2024
Summary
<p>Spinal Muscular Atrophy (SMA) is an autosomal recessive clinical condition where both the disease itself and carrier status are common in our population. Although various treatment options exist, none of them can provide a complete cure. Consequently, early detection of the disease has gained significant importance. In addition to national programs for carrier and newborn screening, the development of methods for detecting the disease during pregnancy is crucial. Approaches based on cell-free fetal DNA (cffDNA) entering the maternal circulation are widely used for many genetic conditions, primarily aneuploidies. Furthermore, the Digital Droplet PCR (ddPCR) method is used as an alternative to next-generation sequencing (NGS) for the detection of low-fraction nucleic acids. This study aims to develop a ddPCR-based diagnostic approach by creating simulated samples compatible with cell-free fetal DNA. Upon successful completion of this study, the goal is to convert this approach into a diagnostic kit suitable for clinical use, following validation and performance tests.</p>