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为探讨不同地区苯丙酮尿症（ＰＫＵ）患者ＰＡＨ基因突变特征并寻找安全可靠的检测ＰＡＨ基因突变方法，应用碱性磷酸酶标记的ＡＳＯ探针杂交技术和生物素标记的双脱氧核糖核苷酸的ＤＮＡ测序技术，对２９例中国北方和台湾地区及日本ＰＫＵ患者ＰＡＨ基因突变进行了检测。检出１１种点突变，其中外显子７、６、１２和３是最常见的突变，分别占３７．９％、１５．５％、１３．８％和１０．３％。在１例台湾ＰＫＵ患者中检出一新生突变（Ｒ１５８Ｗ）。说明中国北方和台湾地区及日本ＰＫＵ患者与高加索人ＰＡＨ基因起源不同，而同属于东方人群的ＰＫＵ患者之间的突变差异可能是由于种族进化中的遗传漂变所致。碱性磷酸酶标记的ＡＳＯ杂交技术和生物素标记的ＤＮＡ测序技术是一种安全可靠的检测基因突变的方法。
In order to explore the characteristics of PAH gene mutation in patients with phenylketonuria (PKU) in different areas and to find a safe and reliable method to detect PAH gene mutation, the alkaline phosphatase-labeled ASO probe hybridization technique and biotin-labeled dideoxyribonucleotide DNA sequencing technique was used to detect PAH gene mutations in 29 PKU patients from northern China, Taiwan and Japan. Eleven kinds of point mutations were detected, of which exons 7, 6, 12 and 3 were the most common mutations accounting for 37.9%, 15.5%, 13.8% and 10.3% respectively. A neoplasia mutation (R158W) was detected in 1 PKU patient in Taiwan. This shows that PKU patients in North China and Taiwan and Japan have different origins of PAH gene from Caucasian patients, while the difference between PKU patients belonging to Oriental population may be due to genetic drift in race evolution. Alkaline phosphatase-labeled ASO hybridization and biotinylated DNA sequencing are safe and reliable methods of detecting gene mutations.