应用单链构型多态分析技术（ｓｉｎｇｌｅｓｔｒａｎｄｃｏｎｆｏｒｍａｔｉｏｎｐｏｌｙｍｏｒｐｈｉｓｍ，ＳＳＣＰ）检测苯丙酮尿症患者的苯丙氨酸羟化酶基因外显子５，在２３例苯丙酮尿症患者中检出２例含突变泳带。测序结果１例为错义突变Ｒ１５８Ｑ，另１例为无义突变Ｙ１６５Ｘ，其中Ｒ１５８Ｑ为再发突变，Ｙ１６５Ｘ为一新发现的突变位点 Single strand conformation polymorphism (SSCP) was used to detect phenylalanine hydroxylase gene exon 5 in patients with phenylketonuria, and two cases of mutation-containing swimming were detected in 23 patients with phenylketonuria band. One case of sequencing was missense mutation R158Q and the other one was nonsense mutation Y165X, of which R158Q was a recurrent mutation and Y165X was a newly discovered mutation