【摘要】 目的:筛查苯丙酮尿症(PKU )患者PAH基因外显子7遗传复合体突变的特点和检测。方法:采用PCR -SSCP和PCR产物序列分析法对10 3个家系进行基因分析。结果:发现一例患者为PAH基因外显子7R2 4 3Q和G 2 5 7V突变的遗传复合体。结论:G2 5 7V突变发生较少见,尤其是R2 4 3Q和G2 5 7V复合体值得跟踪调查,探讨其发生是否与人群和地域分布有关。更多还原

【Abstract】 Objective: The study was to survey genetic compound in exon 7 of PAH gene responsible for PKU, its characteristics and detecting method. Methods: The gene of a patient was analysized by using PCR-SSCP and sequencing of PCR products. Results: It showed that the patient had a genetic complex mutation ,i.e. R243Q and G257V,in exon 7 of PAH gene. Conclusion:The occurence of G257V mutation was rare, especially combined with R243Q, which needed studying to explore whether the occurence was related to the particular population and geography.更多还原