脊肌萎缩基因qPCR筛查数据

对1718例新生儿足跟血斑样本进行脊髓性肌肉萎缩症（Spinal muscular atrophy，SMA）携带者筛查，针对无特殊临床表型的个体运用自主研发的基于qPCR的SMA检测技术进行SMA检测并统计发病率和携带率。针对有特殊临床表型但诊断不明的个体，个体化选择WES或CNV-seq技术进行检测，获得34例SMA携带者样本。A total of 1718 neonatal dried blood spot samples were subjected to spinal muscular atrophy (SMA) carrier screening. For individuals without specific clinical phenotypes, SMA testing was performed using a self-developed qPCR-based SMA detection assay, and the incidence and carrier rate were statistically analyzed. For individuals with specific clinical phenotypes but undetermined diagnosis, individualized testing via whole-exome sequencing (WES) or copy number variation sequencing (CNV-seq) was conducted, and 34 SMA carrier samples were obtained.