Wang T
Institute of Basic Medical Sciences, Beijing.
Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 1991 Feb;13(1):1-6.
Phenylketonuria (PKU) is a common metabolic disorder among Chinese, with a prevalence of about 1 in 16,500 births. This frequency is very similar to that among Caucasians. Individual exons of the phenylalanine hydroxylase (PAH) gene with flanking introns were amplified by the polymerase chain reaction and cloned into M13 for sequence analysis. An Arg111-to-Ter111 mutation was identified in exon 3 of the PAH gene in a Chinese PKU patient. The mutation is in linkage disequilibrium with the mutant haplotype 4, most prevalent among Orientals. The mutation accounts for about 10% of Chinese PKU alleles and is not found in Caucasians, demonstrating that independent mutational events occurred in the PAH locus after racial divergence.
苯丙酮尿症（PKU）在中国是一种常见的代谢紊乱疾病，发病率约为每16,500例出生中有1例。这个频率与白种人中的频率非常相似。通过聚合酶链反应扩增苯丙氨酸羟化酶（PAH）基因带有侧翼内含子的各个外显子，并克隆到M13中进行序列分析。在中国一名苯丙酮尿症患者的PAH基因第3外显子中鉴定出一个Arg111突变为Ter111的突变。该突变与突变单倍型4处于连锁不平衡状态，突变单倍型4在东方人中最为常见。该突变约占中国苯丙酮尿症等位基因的10%，在白种人中未发现，表明在种族分化后PAH基因座发生了独立的突变事件。
