多重连接探针扩增技术及其在疾病诊断中的应用
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摘要
多重连接探针扩增技术(multiplex ligation-dependent probe amplification,MLPA)是将核酸杂交和PCR链式扩增相结合的一项高通量检测技术。自2002年首次报道以来,该技术的研究和应用取得了很大进展,目前已广泛用于遗传性疾病的基因检测、肿瘤预后及病原生物高通量检测领域。介绍了多重连接探针扩增技术的原理,探讨了该技术在疾病诊断中的应用,以期为多重连接探针扩增技术的科学合理应用提供参考。
Multiplex ligation-dependent probe amplification(MLPA)is a high throughput detection technology combining nucleic acid hybridization with PCR chain amplification. Since it was firstly reported in 2002, the development and application of this technology have made a great progress. MLPA is now widely used in gene detection of genetic diseases, tumor prognosis, and high throughput detection of pathogens responsible for infectious diseases. Here, we introduce the principle of MLPA and discuss the employment of MLPA in genetic diseases and infectious diseases, in hoping to provide references for the scientific and rational use of MLPA.
Multiplex ligation-dependent probe amplification(MLPA)is a high throughput detection technology combining nucleic acid hybridization with PCR chain amplification. Since it was firstly reported in 2002, the development and application of this technology have made a great progress. MLPA is now widely used in gene detection of genetic diseases, tumor prognosis, and high throughput detection of pathogens responsible for infectious diseases. Here, we introduce the principle of MLPA and discuss the employment of MLPA in genetic diseases and infectious diseases, in hoping to provide references for the scientific and rational use of MLPA.
引文
[1]SCHOUTEN J P,Mc ELGUNN C J,WAAIJER R,et al.Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplication[J].Nucleic Acids Research,2002,30(12):e57.
[2]方文捷,刘加,潘炜华,等.多重连接探针扩增技术在临床病原体检测中的应用[J].中国真菌学杂志,2015,10(5):307-311.
[3]侯巧芳,廖世秀.MLPA技术在产前诊断中的应用[C]//第十二次全国医学遗传学学术会议论文汇编.郑州:中华医学会,2014.
[4]CHUNG B,SHIN G W,HWANG H S,et al.Precise H1N1swine influenza detection using stuffer-free multiplex ligation-dependent probe amplification in conformationsensitive capillary electrophoresis[J].Analytical Biochemistry,2012,424(1):54-56.
[5]HASIB L,DILCHER M,HUFERT F,et al.Development of a flow-through microarray based reverse transcriptase multiplex ligation-dependent probe amplification assay for the detection of European Bunyaviruses[J].Molecular Biotechnology,2011,49(2):176-186.
[6]DUTRA R L,HONJO R S,KULIKOWSKI L D,et al.Copy number variation in Williams-Beuren syndrome:suitable diagnostic strategy for developing countries[J].BMCResearch Notes,2012,5(1):13.
[7]ZHOU Q,YAO F,HAN X,et al.Rep1 copy number variation is an important genetic cause of choroideremia in Chinese patients[J].Experimental Eye Research,2017,164:64-73.
[8]王薇,魏珉,宋红梅,等.甲基化特异性多重连接探针扩增及甲基化特异性PCR诊断Prader-Willi综合征方法比较[J].协和医学杂志,2014,5(4):369-375.
[9]林炎鸿,丘丽萍,郑德柱,等.多重连接依赖性探针扩增技术在杜氏肌营养不良分子诊断中的应用[J].中国实用儿科杂志,2014,29(2):115-119.
[10]陈万金,王丹妮,何瑾,等.应用多重连接依赖性探针扩增技术快速诊断遗传压力敏感性周围神经病[C]//中华医学会神经病学分会第七届全国中青年神经病学学术大会暨第十届全国神经系统感染性疾病与脑脊液细胞学学术大会.西安:中华医学会,2014.
[11]REIJANS M,DINGEMANS G,KLAASSEN C,et al.Respi Finder:a new multiparameter test to differentially identify fifteen respiratory viruses[J].Journal of Clinical Microbiology,2008,46(4):1232-1240.
[12]张肄鹏,张惠玲,张青,等.一管法MLPA荧光探针溶解曲线分析技术检测15种高危型HPV方法的建立[J].贵阳医学院学报,2016,41(6):675-680.
[13]SHIN G W,NA J,SEO M,et al.Precise expression profiling by stuffer-free multiplex ligation-dependent probe amplification[J].Analytical Chemistry,2013,85(19):9383-9389.
[14]CHUNG B,SHIN G W,PARK C K,et al.Rapid and sensitive detection of lower respiratory tract infections by stuffer-free multiplex ligation-dependent probe amplification[J].Electrophoresis,2014,35(4):511-514.
[15]史喜菊,马贵平,乔彩霞,等.多重连接探针扩增(MLPA)技术同时检测五种病毒的研究[J].农业生物技术学报,2013,21(6):745-752.
[16]史喜菊,马贵平,柏亚铎,等.多重连接探针扩增对5种牛病毒同步检测方法的建立[J].中国兽医学报,2017,37(2):224-230.
[17]V魣ZQUEZ-REYES A,BOBADILLA-MORALES L,BARBA-BARBA C,et al.Aneuploidy identification in pre-B acute lymphoblastic leukemia patients at diagnosis by multiplex ligation-dependent probe amplification(MLPA)[J].Leukemia Research,2017,59:117-123.
[18]杨洋,汤正义,崔斌,等.多重连接依赖式探针扩增法在区分肾上腺皮质肿瘤良恶性中的应用[J].山西医科大学学报,2008,39(9):810-813.
[19]CHUNG B,SHIN G W,CHOI W,et al.An accurate multiplex antibiotic susceptibility test using a high‐resolution CE‐SSCP‐based stuffer‐free multiplex ligation‐dependent probe amplification system[J].Electrophoresis,2013,34(2):284-288.
[20]BERGVAL I L,VIJZELAAR R N,DALLA COSTA E R,et al.Development of multiplex assay for rapid characterization of Mycobacterium tuberculosis[J].Journal of Clinical Microbiology,2008,46(2):689-699.
[21]JIA S,WANG F,LI F,et al.Rapid detection of hepatitis b virus variants associated with lamivudine and adefovir resistance by multiplex ligation-dependent probe amplification combined with real-time PCR[J].Journal of Clinical Microbiology,2014,52(2):460-466.
[2]方文捷,刘加,潘炜华,等.多重连接探针扩增技术在临床病原体检测中的应用[J].中国真菌学杂志,2015,10(5):307-311.
[3]侯巧芳,廖世秀.MLPA技术在产前诊断中的应用[C]//第十二次全国医学遗传学学术会议论文汇编.郑州:中华医学会,2014.
[4]CHUNG B,SHIN G W,HWANG H S,et al.Precise H1N1swine influenza detection using stuffer-free multiplex ligation-dependent probe amplification in conformationsensitive capillary electrophoresis[J].Analytical Biochemistry,2012,424(1):54-56.
[5]HASIB L,DILCHER M,HUFERT F,et al.Development of a flow-through microarray based reverse transcriptase multiplex ligation-dependent probe amplification assay for the detection of European Bunyaviruses[J].Molecular Biotechnology,2011,49(2):176-186.
[6]DUTRA R L,HONJO R S,KULIKOWSKI L D,et al.Copy number variation in Williams-Beuren syndrome:suitable diagnostic strategy for developing countries[J].BMCResearch Notes,2012,5(1):13.
[7]ZHOU Q,YAO F,HAN X,et al.Rep1 copy number variation is an important genetic cause of choroideremia in Chinese patients[J].Experimental Eye Research,2017,164:64-73.
[8]王薇,魏珉,宋红梅,等.甲基化特异性多重连接探针扩增及甲基化特异性PCR诊断Prader-Willi综合征方法比较[J].协和医学杂志,2014,5(4):369-375.
[9]林炎鸿,丘丽萍,郑德柱,等.多重连接依赖性探针扩增技术在杜氏肌营养不良分子诊断中的应用[J].中国实用儿科杂志,2014,29(2):115-119.
[10]陈万金,王丹妮,何瑾,等.应用多重连接依赖性探针扩增技术快速诊断遗传压力敏感性周围神经病[C]//中华医学会神经病学分会第七届全国中青年神经病学学术大会暨第十届全国神经系统感染性疾病与脑脊液细胞学学术大会.西安:中华医学会,2014.
[11]REIJANS M,DINGEMANS G,KLAASSEN C,et al.Respi Finder:a new multiparameter test to differentially identify fifteen respiratory viruses[J].Journal of Clinical Microbiology,2008,46(4):1232-1240.
[12]张肄鹏,张惠玲,张青,等.一管法MLPA荧光探针溶解曲线分析技术检测15种高危型HPV方法的建立[J].贵阳医学院学报,2016,41(6):675-680.
[13]SHIN G W,NA J,SEO M,et al.Precise expression profiling by stuffer-free multiplex ligation-dependent probe amplification[J].Analytical Chemistry,2013,85(19):9383-9389.
[14]CHUNG B,SHIN G W,PARK C K,et al.Rapid and sensitive detection of lower respiratory tract infections by stuffer-free multiplex ligation-dependent probe amplification[J].Electrophoresis,2014,35(4):511-514.
[15]史喜菊,马贵平,乔彩霞,等.多重连接探针扩增(MLPA)技术同时检测五种病毒的研究[J].农业生物技术学报,2013,21(6):745-752.
[16]史喜菊,马贵平,柏亚铎,等.多重连接探针扩增对5种牛病毒同步检测方法的建立[J].中国兽医学报,2017,37(2):224-230.
[17]V魣ZQUEZ-REYES A,BOBADILLA-MORALES L,BARBA-BARBA C,et al.Aneuploidy identification in pre-B acute lymphoblastic leukemia patients at diagnosis by multiplex ligation-dependent probe amplification(MLPA)[J].Leukemia Research,2017,59:117-123.
[18]杨洋,汤正义,崔斌,等.多重连接依赖式探针扩增法在区分肾上腺皮质肿瘤良恶性中的应用[J].山西医科大学学报,2008,39(9):810-813.
[19]CHUNG B,SHIN G W,CHOI W,et al.An accurate multiplex antibiotic susceptibility test using a high‐resolution CE‐SSCP‐based stuffer‐free multiplex ligation‐dependent probe amplification system[J].Electrophoresis,2013,34(2):284-288.
[20]BERGVAL I L,VIJZELAAR R N,DALLA COSTA E R,et al.Development of multiplex assay for rapid characterization of Mycobacterium tuberculosis[J].Journal of Clinical Microbiology,2008,46(2):689-699.
[21]JIA S,WANG F,LI F,et al.Rapid detection of hepatitis b virus variants associated with lamivudine and adefovir resistance by multiplex ligation-dependent probe amplification combined with real-time PCR[J].Journal of Clinical Microbiology,2014,52(2):460-466.