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1目的 探讨苯丙酮尿症的基因诊断方法。2方法 采用聚合酶链反应 -短串联重复序列 (PCR-STR)连锁分析技术和聚合酶链反应 -单链构象多态 (PCR- SSCP)分析技术 ,对 5个苯丙酮尿症家系中 17个成员的苯丙氨酸羟化酶基因突变进行分析。3结果 用 PCR- STR法能准确进行基因诊断的家系 3个 ,5 0 %能排除诊断的家系 2个 ;用 PCR- SSCP法检出 3例已知突变。4结论 联合应用 PCR- STR和 PCR- SSCP技术可以提高苯丙酮尿症的基因诊断率。
1 Objective To investigate the gene diagnosis of phenylketonuria. 2 Methods Polymerase chain reaction-short tandem repeat (PCR-STR) linkage analysis and polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) Members of the phenylalanine hydroxylase gene mutations were analyzed. 3 Results There were 3 pedigrees accurately diagnosed by PCR-STR method and 2 diagnosed pedigrees by 50%. Three known mutations were detected by PCR-SSCP. 4 Conclusion Combined application of PCR-STR and PCR-SSCP technology can improve the gene diagnosis rate of phenylketonuria.