天津地区苯丙氨酸羟化酶基因V245V突变研究

Study on V245V Mutation of Human Phenylalanine Hydroxylase Gene in Tianjin Area

目的:探讨天津地区苯丙氨酸羟化酶基因V245V突变特点。方法:聚合酶链式反应技术扩增42例正常人和44例苯酮尿症病人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测序及限制性酶切法分析扩增产物。结果:对照组和苯酮尿症组该突变位点的基因频率分别为70.2％和79.5％,经统计学检验无显著性差异。结论:天津地区人群中普遍存在V245V同义突变。

To investigate the characteristic of V245V mutation of human phenylalanine hydroxylase gene in Tianjin area. Methods: The DNA samples of 42 controls and 44 patients with phenyalketonuria (PKU) were analyzed by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP), direct sequencing of PCR products and restriction enzyme. Results: the mutation frequency of V245V in the control group and PKU group was 70.2 % and 79.5 % respectively. There was no significant difference between the two groups. Conclusion: The mutation of V245V was present commonly in population of Tianjin area. For Tianjin area, it should be studied that which base is wild type and which base is mutant.