摘要
目的建立单细胞水平的荧光PCR技术,探讨该技术对临床开展着床前遗传学诊断的可行性。方法分离单个颊黏膜细胞,利用荧光PCR技术扩增微卫星D16S423位点,扩增产物在ABI3730上电泳,结果用Genemarker软件分析。结果单个颊黏膜细胞的PCR扩增成功率为93.3%,等位基因脱扣率为10.7%,诊断正确率为89.3%。结论利用单细胞荧光PCR技术进行着床前遗传学诊断是可行的。
Objective To explore the feasibility of using single cell fluorescent polymerase chain reaction （PCR） in the preimplantation genetic diagnosis （PGD）. Method Single buccal cell genetic analysis was performed with fluorescent PCR of linked microsatellite D16S423, followed by electrophoresis on ABI 3730. Result The amplification success rate, allele dropout rate, and diagnostic accuracy rate of the single cell fluorescent PCR were 93.3% , 10. 7% , and 89.3% , respectively. Conclusion Single cell fluorescent PCR is a stable and reliable approach for the PGD.
出处
《中国医学科学院学报》
CAS
CSCD
北大核心
2007年第2期283-286,共4页
Acta Academiae Medicinae Sinicae
关键词
单细胞荧光PCR
着床前遗传学诊断
微卫星
single cell fluorescent polymerase chain reaction
preimplantation genetic diagnosis
microsatellite
