FMR-1基因中CGG重复序列扩增条件的优化

Optimization of PCR Conditions of CGG Repeat Sequence in FMR-1 Gene

目的:优化PCR扩增条件,建立一种有效检测脆性X综合征的方法。方法:在常规PCR的基础上,采用耐高温酶替代法、碱基替代法,同时加入有机溶剂DMSO等,对表型正常的人群进行FMR1基因CGG重复序列检测。结果:改良PCR法可以提高G C富集区扩增效率,并取得了较好的效果。结论:建立了一种扩增FMR-1基因中CGG重复序列的可行方法。

Objective： To establish an efficient method to detect fragile X chromosome syndrome （FraX） by optimizing PCR amplifying condition. Methods： On the basis of conventional PCR, the CGG repeat sequence in FMR-1 gene of the crowd with normal phenotype was detected by hyper-chermoresistant enzyme--replacement,base-replacement and adding an organic solvent DMSO at the same time. Results： Improved PCR could increase the efficiency of amplification in G and C enrichment regions,and obtain better effect. Conclusion： A feasible method of amplifying the CGG repeat sequences in FMR-1 gene was estabfished.