摘要
目的建立单细胞的多量巢式荧光PCR技术，为开展常染色体显性多囊肾疾病行胚胎植入前遗传学诊断提供据。方法用四重荧光巢式PCR和毛细管电泳对单个淋巴细胞的KG8、SM6、CW4和CW2四个微卫星位点进行多态性分析。结果单个淋巴细胞KG9、SM6、CW4和CW2扩增成功率分别为85．93％（55／64）、89．06％（57／64）、92．18％（59／64）和89．06％（57／64），KG。、CW。和CW：的等位基因脱扣率分别为25．64％（10／39）、25％（4／16）和7．01％（4／57），两个位点同时发生的ADO率为2．56％（1／39）。结论该方法为常染色体显性多囊肾疾病行胚胎植入前遗传学诊断提供了依据。
Objective To establish the technology of multiple nest fluorescence single cell PCR, for preimplantation genetic diagnosis for autosomal dominant polycystic kidney disease. Method Use quadruplex nested fluorescent PCR and capillary electrophoresis to analysis the polymorphism type of KG8, SM6, CW4 and CW2 of single lymphocytes. Result The amplification success rate of KG8, SM6, CW4 and CW2 are 85.93%, 89.06%, 92. 18% and 89. 06%, respectively, and the ADO of KGs , CW4 and CW2 are 25.64%, 25% and 7.01%, While the ADO is 2. 56% in two microsatellites discovered simultaneous. Conclusion It provide an evidence of using this technique for the PGD for ADPKD.
出处
《浙江临床医学》
2009年第4期347-349,共3页
Zhejiang Clinical Medical Journal
基金
温州医学院发展基金重大项目（2003001）
