Establishing A Rapid Diagnosis Techniuque For Chromosomes Aneuploidies By Using Multiplex Ligation-Dependent Probe Amplification-Based Real-Time PCR

Background and ObjectivePrenatal diagnosis of syndromes caused by chromosomal is along established part of obstertric care in devoloped cuntries.Trisomies13,18 and 21account for the majority of chromosomal aneuploidies deteceted in prenatal diagnoisis. Last day,Diagnosis of these trisomies relies manily on karyotype analysis .Several molecular methodes have been deveolped for trisomy detection.but performoance or throughput limitations of these methords currently constrain their use om routine testing.so we need a more cheap, easy, quickly, accuracy new molecular method to sove these problems.MethodsWe developed multiplex ligation-dependent probe amplification– based real-time PCR (MLPA/rtPCR) to simultaneously detect these 3 trisomy conditionswith a single reaction. We applied the method to DNA isolated from 155 clinical samples thatincluded 35 cases of trisomy 21, 19 cases of trisomy 18,1 case of trisomy 13, and 100 unaffected control samples;results were compared with karyotype analysis. ResultsAs judged by the results of the karyotype analysis, MLPA/rtPCR correctly detected all 44 cases of trisomyin the analysis of the blinded clinical samples.The method was able to detect a change in chromosomedosage as low as 1.2-fold.ConclusionWe establish a Multiplex Ligation-Dependent Probe Amplification-Based Real-Time PCR method for diagnosis of chromosomes aneuploidies, this rapid prenatal diagnosis technique is simple, fast, low cost, large flux and with the clinical value. This novel PCR-based technology simultaneously identified 3 types of trisomy in a single reaction and accurately detected trisomy with mosaicism The MLPA/rtPCR approach may have applicability in noninvasive prenatal diagnosis with maternal blood samples.