目的:评价CNVPLUS阵列在脊髓性肌萎缩症(SMA)基因分析中的应用价值。
方法:从2021年6月到2022年12月,采用CNVPLUS阵列技术检测17例疑似SMA患者外周血样本中的SMN1和SMN2基因,18个疑似SMA的核心家庭,25个健康的人将结果与多重连接依赖性探针扩增(MLPA)测定的结果进行比较。对结果不一致的样品进行巢式PCR或SMA的综合分析。
结果:CNVPLUS阵列已经确定了35名SMA患者,36个运营商,25个健康的人相比之下,MLPA已经确定了34名SMA患者,36个运营商,26个健康的人。两种方法具有较高的一致性(Kappa=0.968,P<0.001)。此外,CNVPLUS-array已鉴定出一名具有SMN1的复合杂合变体的患者和一名具有[2+0]基因型的携带者。
结论:CNVPLUS-array不仅能准确测定SMN1和SMN2基因的拷贝数,还可以识别SMN1和[2+0]携带者的点突变,为SMA基因检测提供了一种新的方法。
OBJECTIVE: To assess the application value of CNVPLUS-array for the genetic analysis of Spinal muscular atrophy (SMA).
METHODS: From June 2021 to December 2022, CNVPLUS-array technique was employed to test the SMN1 and SMN2 genes among peripheral blood samples from 17 suspected SMA patients, 18 core families with suspected SMA, and 25 healthy individuals. The results were compared with those of multiple ligation-dependent probe amplification (MLPA) assay. Samples with inconsistent results were subjected to nested PCR or comprehensive analysis of SMA.
RESULTS: CNVPLUS-array has identified 35 SMA patients, 36 carriers, and 25 healthy individuals. In comparison, MLPA has identified 34 SMA patients, 36 carriers, and 26 healthy individuals. The two methods demonstrated a high consistency (Kappa = 0.968, P < 0.001). Additionally, CNVPLUS-array has identified one patient with compound heterozygous variants of SMN1 and one carrier with a [2+0] genotype.
CONCLUSIONS: CNVPLUS-array not only can accurately determine the copy numbers of SMN1 and SMN2 genes, but also identify point mutations in SMN1 and [2+0] carriers, which has offered a new method for the genetic testing of SMA.