以特异性引物延伸为基础的非综合征唇腭裂易感基因芯片技术

Gene microarray based on allele-specific primer extension for NSCL/P

目的设计一种适合检测非综合征唇腭裂(NSCL/P)相关大量单核苷酸多态性(SNP)的基因芯片。方法直接测序法验证基因芯片的准确性,重复检测部分样品验证基因芯片的重复性。结果本研究设计了一种以特异性引物延伸为基础的,适合检测NSCL/P大量相关SNP的,快速、有效、方便、经济、高通量的基因芯片。结论这种基因芯片为临床NSCL/P基因诊断提供一种新型的、灵敏度高、操作简单的技术手段。

Objective To design gene microarray suitable for genotyping extensive SNPs involved in NSCL/P. Methods Direct sequencing was used to ensure the accuracy of gene microarray results. In order to ensure the repeatability of gene microarray results, some samples were tested three times. Results In this study, we designed an efficient,rapid, convenient, highly parallel, and inexpensive gene microarray that is based on allele-specific primer extension and suitable for genotyping SNPs involved in NSCL/P. Conclusion It is a new, sensitive, simple method for NSCL/P gene diagnosis in clinic.