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目的建立快速简便、特异灵敏的鉴定PAH基因第6外显子c.611A>G突变热点的基因诊断方法。方法针对突变频率较高的PAH基因第6外显子的突变热点c.611A>G,设计等位基因特异性扩增(amplification refractory mutationsystem,ARMS)的特异引物,对山西省已经临床确诊的70例经典型PKU患儿、c.611A>G突变患儿的家长及50例正常儿童进行第6外显子扩增,扩增产物测序验证。结果在受检的山西省患儿中,PAH基因第6外显子c.611A>G突变位点ARMS检测结果和测序结果完全相符。结论 ARMS技术操作简便,重复性和稳定性好,可作为PAH基因热点突变的快速灵敏检测方法。
Objective To establish a rapid, simple and sensitive method for gene diagnosis of c.611A> G mutation hot spot in exon 6 of PAH gene. Methods Aiming at the mutation hot spot c.611A> G of exon 6 of PAH gene with higher mutation frequency, we designed the specific primer of amplification refractory mutations system (ARMS) Cases of children with classical PKU, c.611A> G mutation in children and parents of 50 normal children were exon 6 amplification, sequencing of the amplification products verified. Results The ARMS results of c.611A> G mutation of exon 6 of PAH gene in Shanxi children were completely consistent with the results of sequencing. Conclusion The ARMS technique is simple, reproducible and stable and can be used as a rapid and sensitive method for detecting hot spot mutations in PAH gene.