多重定量荧光PCR快速产前诊断常见染色体非整倍体疾病  

Application of Multiple Quantitative Fluorescence Polymerase Chain Reaction for the Rapid Prenatal Diagnosis of Common Chromosome Aneuploidies

作　　者：邓玉清[1] 肖晓素[2] 刘晓翌[2] 张静媛[1] 雷桔红[1] 

机构地区：[1]北京大学深圳医院妇产科,深圳518036 [2]北京大学深圳医院遗传实验室,深圳518036

出　　处：《华中科技大学学报（医学版）》2009年第3期347-350,共4页Acta Medicinae Universitatis Scientiae et Technologiae Huazhong

摘　　要：目的建立适合中国人群特点的常见染色体非整倍体疾病快速产前诊断技术。方法收集89例妊娠16～21周,羊水穿刺进行胎儿细胞培养染色体核型分析孕妇的羊水,采用定量荧光PCR(quantitative fluorescence PCR,QF-PCR)技术对21、18、13、X/Y染色体上杂合度较高的短串联重复序列(short tandom repeat,STR)位标进行扩增检测,与染色体核型分析的结果进行对照分析;并分析正常核型胎儿21、18、13、X/Y染色体上的STR的多态信息含量(PIC)。结果89例未培养羊水标本经过QF-PCR检测,发现4例21三体,2例18三体,1例13三体,1例性染色体三体,与细胞培养染色体核型分析结果一致。1例21三体结果难以判定,染色体核型分析证实为嵌合体,嵌合比例为32%。其余80例正常,与染色体核型分析结果一致。中国人21、18、13、X/Y染色体上STR:D21S11、D21S1435、D21S1270、D21S1411、D18S391、D18S978、D18S386、D18S499、D13S742、D13S634、D13S628、D13S305、XHPRT和X22的PIC分别为0.761、0.845、0.952、0.893、0.721、0.848、0.926、0.904、0.912、0.787、0.918、0.946、0.890、0.826。结论本研究所选STR位标在中国人群中呈现较高的遗传多态性,符合Hardy-Weinberg平衡定律;多重定量荧光PCR技术适用于快速产前诊断常见染色体非整倍体疾病。Objective To apply the technique of multiple quantitative fluorescence polymerase chain reaction （QF-PCR） for the rapid prenatal diagnosis of common chromosome aneuploidies in Chinese population. Methods We chose the high polymorphic short tandem repeat （STR） markers in chromosomes of 21, 18, 13, X/Y, in which aneuploidies occurred more often than others. DNA was extracted from 89 amniotic fluid samples with 16--21 weeks gestation for QF-PCR to establish the technique for the rapid prenatal diagnosis. Results We diagnosed 8 abnormal amniotic fluid sanyles of aneuploidies, trisomy 21, trisomy 18, trisomy 13 and Klinefelter syndrome. The results were in accordance with karyotype. One case of trisomy 21 was difficult to determine the outcome, and karyotype analysis confirmed mosaicism with mosaicism ratio being 32%. The remaining 80 cases were normal, and the results were in accordance with karyotype. D21S11, D21S1435, D21S1270, D21S1411, D18S391, D18S978, D18S386, D18S499, D13S742, D13S634, D13S628, D13S305, XHPRT, and X22 were analyzed by QF-PCR, whose polymorphic information content （PIC） was 0. 761, 0. 845, 0. 952, 0. 893, 0. 721, 0. 848, 0. 926, 0. 904, 0. 912, 0. 787, 0. 918, 0. 946, 0. 890, and 0. 826, respectively. Conclusion The STR markers we chose were all highly polymorphic. The technique of multiple QF-PCR was suitable for rapid prenatal diagnosis of chromosome anueploidies in accordance with Hardy-Weinberg.

关 键 词：短串联重复序列 定量荧光PCR 产前诊断 染色体非整倍体疾病 

分 类 号：R714.55[医药卫生—妇产科学]