Wang T, Okano Y, Eisensmith R C, Lo W H, Huang S Z, Zeng Y T, Woo S L
Howard Hughes Medical Institute, Department of Cell Biology, Baylor College of Medicine, Houston, TX 77030.
Am J Hum Genet. 1991 Mar;48(3):628-30.
A novel mutation has been identified in the human phenylalanine hydroxylase (PAH) gene of a Chinese patient with classical phenylketonuria (PKU). It is a single base transition of G to A at the last base in intron 4 of the gene, which abolishes the 3'-acceptor site of the intron. Population screening indicates that this mutation constitutes about 8% of all PKU chromosomes in Chinese but is absent in Japanese and Caucasian PKU patients. It is prevalent in southern China but rare in northern China, providing additional evidence that there were multiple founding populations of PKU in east Asia.
在中国一名患有典型苯丙酮尿症（PKU）的患者的人类苯丙氨酸羟化酶（PAH）基因中发现了一种新的突变。它是该基因第4内含子最后一个碱基处从G到A的单碱基转换，这消除了该内含子的3' - 受体位点。群体筛查表明，这种突变在中国所有PKU染色体中约占8%，但在日本和高加索PKU患者中不存在。它在中国南方普遍存在，但在北方罕见，这为东亚存在多个PKU创始群体提供了额外证据。
