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应用扩增片段长度多态性（ＡＭＰ－ＦＬＰ）连锁分析法，对４例苯丙酮尿症（ＰＫＵ）高危胎儿进行产前基因诊断。结果：１例为正常胎儿；２例为携带者；另１例胎儿可能为携带者，亦可能为正常个体。４例胎儿出生后，经枯草杆菌抑制试验（Ｇｕｔｈｒｉｅ试验），均非ＰＫＵ患者。
Four cases of high risk fetus with phenylketonuria (PKU) were diagnosed prenatally by AMP-FLP linkage analysis. Results: 1 case of normal fetuses; 2 cases of carriers; another case of fetus may be carriers, may also be normal individuals. Four cases of fetus after birth, by Bacillus subtilis inhibition test (Guthrie test), are not PKU patients.