Wang T, Okano Y, Eisensmith R C, Lo W H, Huang S Z, Zeng Y T, Yuan L F, Liu S R, Woo S L
Department of Cell Biology, Howard Hughes Medical Institute, Baylor College of Medicine, Houston, Texas 77030.
Genomics. 1992 May;13(1):230-1. doi: 10.1016/0888-7543(92)90229-l.
Three novel mutations have been identified in the phenylalanine hydroxylase (PAH) genes of Chinese classical phenylketonuria (PKU) patients. Two of these substitutions (W326X and Y356X) result in the generation of a premature stop codon, while the third (IVS-7nt2) alters an invariant dinucleotide splicing signal. These mutations together account for about 10% of all PKU alleles in the Chinese population. The W326X mutation is associated with PAH RFLP haplotype 4, the most common haplotype in Orientals, while the IVS-7nt2 mutation occurs once on a haplotype 7 chromosome. The Y356X mutation is associated with multiple haplotypes, possibly due to crossover, gene conversion, or recurrent mutation.
在中国经典型苯丙酮尿症（PKU）患者的苯丙氨酸羟化酶（PAH）基因中已鉴定出三种新突变。其中两个替换突变（W326X和Y356X）导致产生提前终止密码子，而第三个突变（IVS-7nt2）改变了一个不变的二核苷酸剪接信号。这些突变共同占中国人群中所有PKU等位基因的约10%。W326X突变与PAH限制性片段长度多态性（RFLP）单倍型4相关，这是东方人中最常见的单倍型，而IVS-7nt2突变在一个单倍型7染色体上出现过一次。Y356X突变与多种单倍型相关，可能是由于交叉、基因转换或反复突变所致。
