唐氏综合征快速产前诊断方法的研究.docVIP

唐氏综合征快速产前诊断方法的研究 【摘要】目的：建立快速产前诊断唐氏综合征的方法。方法：以唐氏综合征关键区域内的STR ( Short tandem repeat,STR)作为遗传标记，采用荧光定量PCR的方法扩增外周血和胎儿羊水标本STR位点，同时与细胞遗传学分析结果比较，评价荧光定量PCR快速诊断方法的特异性和灵敏度。结果：细胞遗传学分析确诊的68例正常核型和32例唐氏综合征标本中，荧光定量PCR快速诊断结果均与染色体核型分析结果一致。其中正常核型的STR位点杂合体样本扩增产物显示为双峰，各位点的峰面积比值分别是D21S11 1.1～1.2;D21S1411 1.3～1.5;D21S2039 1.0～1.1;STR位点纯合体样本的扩增产物显示为单峰。而唐氏综合征患者的样本STR位点扩增产物可显示为1∶1∶1的三个峰，或者典型的2∶1的双峰，此类双峰的峰面积比值分别为D21S11 1.4～1.9;D21S1411 1.5～2.0;D21S2039 1.3～1.6。正常组和病例组的峰面积比值经秩和检验差异有显著意义(P0.01)。结论：荧光定量PCR具有快速、特异性高、可标准化操作等优点，适宜于快速诊断唐氏综合征。 【关键词】 荧光定量PCR;唐氏综合征;产前诊断A Study on the rapid prenatal diagnosis for Downrsquo;s syndrome BAO Ru-rong[1], ZHU Bao-sheng[2], SU Jie[2], TANG Xin-hua[2] (1.The Affiliated Hospital, Qiannan Medical College for Nationalities, Duyun 558000, China;2. Genetic Diagnosis Center, The First Peoplersquo;s Hospital of Yunnan Province, Kunming 650032, China) 【Abstract】 Objective To set up a method for rapid detection of the Downrsquo;s syndrome Methods Choosing certain STRs which locate in the Downrsquo;s syndrome critical region as the genetic markers of chromosome 21, QF-PCR was employed to test the STR ploidies of samples. Its sensitivity and specificity were evaluated through comparing the results from QF-PCR with those from cytogenetic analysis. Results In these 68 normal and 32 Downrsquo;s syndrome samples, the result by QF-PCR are in accord with the cytogenetics analysis. In the samples with normal karyotypes, the amplicons of STRs displayed either diallelic peaks or single peak, the peak area ratios of each diallelic peak were 1.1～1.2 for D21S11, 1.3～1.5 for D21S1411 and 1.0～1.1 for D21S2039, respectively. However, in the samples with Downrsquo;s syndrome, the amplicons of STRs might show triallelic peaks with similar fluorescent intensity, or characteristic diallelic peaks with 2∶1 intensity, or a single peak. The peak area ratios of such diallelic peaks were 1.4～1.9 for D21S11, 1.5～2.0 for D21S1411, 1.3～1.6 for D21S2039 , respectively. A significant difference in