应用荧光原位杂交技术进行产前诊断的可行性探讨  

A study on the feasibility of prenatal diagnosis by using interphase fluorescence in situ hybridization

作　　者：许争峰[1] 王迅美[1] 潘淑娟[2] 张锡然[2] 陈宜峰[2] 

机构地区：[1]南京市鼓楼医院,210008 [2]南京师范大学生物系

出　　处：《江苏医药》2000年第11期861-863,共3页Jiangsu Medical Journal

基　　金：江苏省计划生育委员会基金资助!(BS95 0 19)

摘　　要：目的　探讨荧光原位杂交技术 (FISH)应用于绒毛及羊水间期细胞进行产前诊断的可行性。方法　应用 18、X号染色体着丝粒探针及 2 1号染色体特定区域探针 ,分别对绒毛及羊水间期细胞进行荧光原位杂交 ,并与中期分裂相进行比较分析。结果　绒毛及羊水间期细胞均出现了杂交信号 ,尤以绒毛细胞杂交比率高 ,信号强 ;常染色体探针出现 3个及 1个杂交点的比率约为 1%和6 % ,X染色体探针出现 3点的比例也在 1%左右。结论　荧光原位杂交技术对检出染色体非整倍体有较强的特异性 ,同时也为染色体非整倍体的检出提供了诊断依据。FISH技术应用于产前诊断具有快速、简便、灵敏的优点 。Objective To evaluate the possibility of fluorescence in situ hybridization (FISH) in prenatal diagnosis.Methods It was preformed on uncultured amniocytes and chorionic villus cells by using 18 and X α satellite probes and 21 specific repeated sequences probe.Results Two types of cells can produce hybridization signals.It gives the most specific singnal for mesenchymal chorionic villi.The results of autosome probes showed about 1% trisignals and 6% monosignals in normal chorionic villi and amniocyte cells.The results of X chromosome also showed a very low trisignal rate(about 1%)in normal fetals.Conclusion These can provide references for diagnosis of monosomy and trisomy of autosomes and trisomy or multisomy of X chromosome.Compared with traditional cell genetic method,interphase FISH,is easy and rapid,so it useful in clinical diagnosis.

关 键 词：荧光原位杂交 产前诊断 染色体异常 

分 类 号：R714.55[医药卫生—妇产科学]