【摘要】 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。更多还原

【Abstract】 Objective To study the method for gene diagnosis of phenylketonuria(PKU).\ Methods\ The gene mutation of phenylalanine hydroxylase (PAH) gene of 5 families with PKU was analyzed by linkage analysis of polymerase chain reaction short tandem repeat (PCR STR) and polymerase chain reaction single strand conformation polymorphism (PCR SSCP). Results \ Accurate gene diagnosis was achieved in 3 families, 50% exclusion diagnosis was achieved in 2 families by PCR STR, 3 cases of known gene mutation were detected by PCR SSCP.\ Conclusion\ The PAH gene analyzed by joint use of PCR STR and PCR SSCP can improve gene diagnosis rates of PKU. [更多还原