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目的初步建立多重PCR联合DHPLC技术检测21-三体综合征的方法。方法针对21号染色体上特异的3个STR位点(D21S1435、D21S1411、D21S11)设计引物,对100例外周血标本(其中25例21三体标本)提取基因组DNA进行多重PCR扩增,得到的PCR产物通过DHPLC仪进行结果分析。结果 DHPLC分析100例标本中21例为21-三体标本,其中20例21-三体标本的诊断结果与染色体核型分析结果一致,DHPLC技术检测21-三体异常灵敏度和特异度分别为80%,98.67%。结论 DHPLC技术诊断外周血标本结果与染色体核型诊断结果具有同一性,DHPLC技术可以对21三体综合症作出快速、较为准确的诊断。
Objective To establish a multiplex PCR combined with DHPLC technique to detect 21-trisomy syndrome. Methods Primers were designed according to three specific STR loci on chromosome 21 (D21S1435, D21S1411, D21S11). Genomic DNA was extracted from 100 peripheral blood samples (25 of 21 trisomy specimens) by multiplex PCR. The obtained PCR The product was analyzed by DHPLC for the results. Results In DHPLC, 21 cases of 21 trisomy specimens were detected in 21 cases. The diagnostic results of 20 cases of 21-trisomy specimens were consistent with the results of chromosome karyotype analysis. The sensitivity and specificity of 21-trisomy by DHPLC were 80 %, 98.67%. Conclusion The results of DHPLC in diagnosing peripheral blood samples are identical with those of chromosome karyotype diagnosis. DHPLC can make rapid and accurate diagnosis of trisomy 21.