定量荧光PCR技术产前检测21三体嵌合体二例  

Detection of two cases of mosaic trisomy 21 in prental samples by QF-PCR

作　　者：李发涛 廖灿 杨昕 易翠兴 李焱 汤雪薇 

机构地区：[1]广州市妇女儿童医疗中心优生围产研究所,广州510623

出　　处：《中国优生与遗传杂志》2012年第3期29-30,共2页Chinese Journal of Birth Health & Heredity

基　　金：广州市医药卫生科技项目(2009-YB-216)

摘　　要：目的报道采用多重定量荧光PCR(QF-PCR)方法在产前诊断中检测到2例21-三体嵌合体。方法采用QF-PCR方法检测21号染色体的数目同时采用传统的核型分型方法检测产前羊水标本,并将二者结果进行对比。结果 QF-PCR方法可以明显看出21三体嵌合体2例,核型分析这2个标本结果为:47,XX,+21[5]/46,XX,[45];47,XX,+21[34]/46,XX,[66]。结论 QF-PCR方法与核型分析方法一样可以用于产前三体嵌合体检测,为遗传咨询和产前诊断提供实验依据。Objective： To present two amniotic fluid samples of mosaic trisomy 21 detected by QF-PCR.Methods： We test amniotic fluid samples using QF-PCR analysis of uncultured cells and meanwhile karyotype analysis of G-banded chromosomes from cultured cells,and then compare the results.Results： Two mosaic trisomy 21 amniotic fluid samples were detected by QF-PCR and by karyotype analysis also.The karyotype analysis results of these two samples were 47,XX,＋21[5]/ 46,XX,and 47,XX,＋21/46,XX.Conclusion： QF-PCR is another method could be used as karyotype analysis for detection of mosaic trisomy in prenatal diagnosis.

关 键 词：嵌合体 QF-PCR 唐氏综合征 产前诊断 

分 类 号：R714.55[医药卫生—妇产科学]