摘要
目的探讨CNVPLUS®-array定制芯片对于脊肌萎缩症(SMA)基因的检测价值。方法采用CNVPLUS®-array技术对17例疑诊SMA患者、18个疑诊SMA的核心家系和25名健康者的外周血样进行SMN1、SMN2基因检测,并与多重探针连接扩增(MLPA)检测的结果比较,对结果不一致的受检样本进行巢式PCR检测或SMA基因三代测序检测。本研究通过上海交通大学医学院附属新华医院医学伦理委员会的审查(伦理号:XHEC-D-2024-038)。结果CNVPLUS®-array共检出35例SMA患者、36例携带者、25例健康者,MLPA共检出34例SMA患者、36例携带者、26例健康者。上述2种检测方法具有强一致性(Kappa=0.968,P<0.001)。CNVPLUS®-array另发现1例SMN1复合杂合变异患者(SMN1杂合缺失/c.863G>T点变异)和1例[2+0]基因型携带者。结论CNVPLUS®-array技术不仅能够准确检测SMN1和SMN2的拷贝数,还能检出SMN1的点变异和[2+0]型携带者,为SMA的基因检测提供了新的方法。
ObjectiveTo assess the application value of CNVPLUS®-array for the genetic analysis of spinal muscular atrophy(SMA).MethodsFrom 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.This study was approved by the Shanghai Institute for Pediatric Research,Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine(Ethics No.XHEC-D-2024-038).ResultsCNVPLUS®-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.ConclusionCNVPLUS®-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.
作者
杨婷婷
郭彩琴
方丹枫
刘怡
余永国
Yang Tingting;Guo Caiqin;Fang Danfeng;Liu Yi;Yu Yongguo(Department of Pediatric Endocrinology and Genetic Metabolism,Shanghai Institute for Pediatric Research,Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine,Shanghai 200092,China;Department of Medical Genetics and Prenatal Diagnosis,Wuxi Maternity and Child Health Care Hospital(Affiliated Women′s Hospital of Jiangnan University),Wuxi,Jiangsu 214002,China;Department of Pediatric Internal Medicine,Taizhou Central Hospital(Taizhou College Hospital),Taizhou,Zhejiang 318000,China)
出处
《中华医学遗传学杂志》
CAS
CSCD
2024年第9期1124-1130,共7页
Chinese Journal of Medical Genetics
基金
国家重点研发计划(2022YCF2703400)。
