MLPA技术在单基因遗传病DMD/BMD、SMA基因诊断中的应用的开题报告摘要：MLPA（MultiplexLigation-dependentProbeAmplification）技术是一种可以精准检测基因副本数的方法，已经在遗传病诊断中得到广泛应用。本文主要介绍了MLPA技术在单基因遗传病DMD/BMD（Duchenne肌萎缩症/Becker肌萎缩症）和SMA（脊髓肌萎缩症）基因诊断中的应用。首先介绍了DMD/BMD和SMA的基本概念、病因和临床特点，分析了传统的PCR技术在检测DMD/BMD和SMA基因中存在的局限性和不足。随后，本文详细介绍了MLPA技术的特点和原理，阐述了其在DMD/BMD和SMA基因诊断中的应用，并对其优劣势进行了分析和比较。最后，本文总结了MLPA技术在单基因遗传病DMD/BMD和SMA基因诊断中的应用的前景和发展方向，并给出了未来的研究方向和建议。关键词：MLPA技术；DMD/BMD；SMA；基因诊断；遗传病Abstract:MLPA（MultiplexLigation-dependentProbeAmplification）isamethodthatcanaccuratelydetectgenecopynumberandhasbeenwidelyusedingeneticdiseasediagnosis.ThispapermainlyintroducestheapplicationofMLPAtechnologyinthediagnosisofsinglegeneinheriteddiseasesDMD/BMD（Duchennemusculardystrophy/Beckermusculardystrophy）andSMA(spinalmuscularatrophy).Firstly,thebasicconcepts,etiologyandclinicalfeaturesofDMD/BMDandSMAwereintroduced,andthelimitationsandshortcomingsoftraditionalPCRtechnologyindetectingDMD/BMDandSMAgeneswereanalyzed.Then,MLPAtechnologywasintroducedindetail,includingitscharacteristicsandprinciples,anditsapplicationinthediagnosisofDMD/BMDandSMAgeneswasexplained.TheadvantagesanddisadvantagesofMLPAtechnologywerecomparedandanalyzed.Finally,thispapersummarizestheprospectanddevelopmentdirectionofMLPAtechnologyinthediagnosisofsinglegeneinheriteddiseasesDMD/BMDandSMAgenes,andgivessuggestionsforfutureresearchdirection.Keywords:MLPAtechnology;DMD/BMD;SMA;genediagnosis;geneticdisease.