三种脊肌萎缩症携带者筛查方法的性能评估
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1.南京医科大学第一临床医学院医学检验学系;2.南京市妇幼保健院遗传医学中心

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Evaluating the performance of three assays for carrier screening of spinal muscular atrophy
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1.Department of Laboratory Medicine,The First School of Clinical Medicine,Nanjing Medical University;2.Department of Prenatal Diagnosis, Women’s Hospital of Nanjing Medical University,Nanjing Maternity and Child Health Care Hospital

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    摘要:

    目的:比较三种分子遗传技术在脊肌萎缩症基因携带者筛查检测中的检测性能。方法:采用微滴数字PCR(ddPCR)、高分辨率溶解曲线(HRM)与多重竞争性PCR联合毛细管电泳(PCR/CE)技术检测516例样本中SMN基因拷贝数,并通过多重连接依赖探针扩增(MLPA)方法作为金标准技术验证结果。结果:ddPCR、HRM和PCR/CE检测SMN1第7外显子的拷贝数与MLPA分析结果一致,敏感性和特异性为100%。HRM检测SMN1基因8号外显子单拷贝的灵敏性和特异性为100%和99.5%,双拷贝的灵敏度和特异性为99.4%和100%,而大于双拷贝的灵敏性和特异性为100%和100%。PCR/CE可以同时检测SMN1和SMN2基因的第7、8号外显子,检测结果与MLPA结果完全一致,灵敏性和特异性均为100%。结论:本研究比较了三种分子遗传技术在SMA携带者筛查检测效能,为建立大规模人群脊肌萎缩症携带者筛查技术选择提供依据。

    Abstract:

    Objective: To compare the efficiency of three assay for carrier screening of spinal muscular atrophy. Methods: A total of 516 samples were re-tested for the SMN1 copy number by using multiplex ligation probe amplification (MLPA), droplet digital PCR (ddPCR), high-resolution melting (HRM) analysis, and PCR-based capillary electrophoresis (PCR/CE) simultaneously. Results: The results of ddPCR, HRM and PCR/CE in detecting SMN1 exon 7 are consistent with those of MLPA, resulting in 100% sensitivity and specificity. The sensitivity and specificity of HRM for detection of 1 copy SMN1 exon 8 were 100% and 99.5%, respectively. They were 99.4% and 100%, respectively for detection of 2 copies, and 100% and 100%, respectively for detection of >2 copies. Additionally, the results of PCR/CE in detecting both SMN1 and SMN2 exon 7 and exon 8 are consistent with those of MLPA, resulting in 100% sensitivity and specificity. Conclusion: Our study provides useful information to select appropriate methods for SMA carrier screening. Keywords: spinal muscular atrophy; carrier screening; ddPCR; HRM; PCR/CE

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  • 收稿日期:2023-05-31
  • 最后修改日期:2023-07-27
  • 录用日期:2023-10-18
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