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目的探讨荧光多重PCR(quantitative fluorescent PCR,QF-PCR)技术在13-三体综合征和18-三体综合征诊断中的应用价值。方法采集脐血样本126份,羊水样本110份,外周血12份。针对18号染色体和13号染色体上各4个多态性短串联重复序列(STR)位点应用QF-PCR方法进行多重扩增,使用毛细管电泳法进行产物分析。所有样本同时进行染色体核型分析。结果染色体核型分析中243例为非三体核型;4例18-三体,1例13-三体。多重荧光PCR法检出4例18-三体,1例13-三体,243例非三体核型均为阴性。QF-PCR结果与核型分析结果一致。结论多重荧光PCR技术可用于13-三体综合征和18-三体综合征的快速诊断。
Objective To investigate the value of quantitative fluorescent PCR (QF-PCR) in the diagnosis of 13-trisomy and 18-trisomy syndrome. Methods 126 samples of umbilical cord blood, 110 samples of amniotic fluid and 12 peripheral blood samples were collected. Multiplex amplification was performed using QF-PCR on four polymorphic tandem repeat (STR) sites on chromosome 18 and chromosome 13, respectively, and the product was analyzed by capillary electrophoresis. All samples were analyzed for karyotype simultaneously. Results 243 cases of non-trisomy karyotype karyotype analysis; 4 cases of 18-trisomy, 13 cases of trisomy. Four cases of 18-trisomy, 1 case of 13-trisomy, 243 cases of non-trisomy karyotype were detected by multiplex fluorescence PCR. QF-PCR results were consistent with karyotyping results. Conclusion Multiplex fluorescence PCR can be used for the rapid diagnosis of 13-trisomy and 18-trisomy syndrome.