Aim:To set up a method of prenatal diagnosis of classic phenylketonuria ( PKU) by linkage analysis of the short tandem repeat(STR) in intron 3 linked to the phenylalanine hydroxylase (PAH) gene.

• 目的:建立一种利用苯丙氨酸羟化酶(PAH)基因内含子3中短串联重复序列(STR)多态性连锁分析进行经典型苯丙酮尿症(PKU)产前诊断的方法。