摘要
目的对自闭症患者FMR1基因5′非编码区CGG重复序列及重复数进行检测,探索检测脆性X综合征的新方法。方法应用三引物荧光PCR-毛细管电泳法(Qseq100TM全自动核酸分析系统检测)对111例自闭症患者进行筛查,检测其FMR1基因5′非编码区CGG序列,计算CGG重复数,并与ABI 3500Dx基因分析仪毛细管电泳测序法进行结果比较验证。结果 111例临床检测为自闭症的样本中,有2例为FMR1前突变携带者,一例为中间型。与3500Dx毛细管电泳测序结果一致。结论三引物荧光PCR-毛细管电泳法能够用来检测FMR1基因5′非编码区CGG重复序列,在脆性X综合征发病机制及大规模携带者筛查方面都具有一定的应用价值。
Objective To detect the repetition of CGG repeats and repeat numbers of 5′non-coding regions of FMR1 gene in autistic patients, and to explore a new method for detecting fragile X syndrome.Method A total of 111 autistic patients were screened by tri-primer fluorescence PCR and capillary electrophoresis（Qseq100^TM automatic nucleic acid analysis system）. The FMR1 gene 5′non-coding region CGG sequence was detected and the CGG repeats were calculated. The results were verified by ABI 3500 Dx capillary electrophoresis sequencing. Results Among the 111 cases of autistic samples, 2 cases were FMR1 pre-mutation carriers and 1 case was intermediate. This result is consistent with the results of 3500 Dx capillary electrophoresis sequencing. Conclusion Tri-primer fluorescence PCR-capillary electrophoresis can be used to detect the CGG repeats of 5′ non-coding regions of FMR1 gene. It is of great value to study on the pathogenesis and crowd screening of fragile X syndrome.
出处
《分子诊断与治疗杂志》
2017年第5期319-324,共6页
Journal of Molecular Diagnostics and Therapy
基金
广东省科技计划(2015A030401040)
