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目的 探讨天津地区苯丙氨酸羟化酶基因外显子 7突变特点。方法 聚合酶链技术扩增 41例 PKU患者的苯丙氨酸羟化酶基因外显子 7,用单链 DNA构象多态性、直接 DNA测序法分析扩增产物。结果 共发现 4种点突变 :R2 43Q和 G2 5 7V错义突变 ,R2 6 1X失义突变、V2 45 V同义突变。 4种突变的基因频率分别为 14.6 %、1.2 %、1.2 %和 78% ,其中 R2 6 1X失义突变国内未见报道。结论 天津地区苯丙氨酸羟化酶基因外显子 7突变有其特点。
Objective To investigate the mutation of phenylalanine hydroxylase gene exon 7 in Tianjin area. Methods Polymerase chain reaction (PCR) was used to amplify the phenylalanine hydroxylase gene exon 7 in 41 cases of PKU patients. The amplified product was analyzed by single strand DNA conformation polymorphism and direct DNA sequencing. Four types of point mutations were found: R2 43Q and G2 5 7V missense mutations, R2 6 1X alanine mutations, V2 45 V synonymous mutations. The frequencies of the four mutations were 14.6%, 1.2%, 1.2% and 78%, respectively. The mutation of R2 6 1X was not reported in China. Conclusion The phenylalanine hydroxylase gene exon 7 mutation in Tianjin has its own characteristics.