Huang S Z, Ren Z R, Zeng Y T, Woo S L
Shanghai Institute of Medical Genetics, Shanghai Children's Hospital, Shanghai, People's Republic of China.
Hum Genet. 1991 Jan;86(3):305-6. doi: 10.1007/BF00202416.
A silent mutation or sequence polymorphism, an A to T substitution at codon 399 in exon 11 of the phenylalanine hydroxylase (PAH) gene has been identified by DNA sequence analysis in the Chinese. The frequencies of this new mutation in normal and abnormal (phenylketonuria: PKU) genes are 0.005 and 0.09, respectively, based on the analyses of 100 apparently normal individuals and 39 PKU patients, as demonstrated by DNA amplification with polymerase chain reaction (PCR) and oligonucleotide hybridization methods. The results suggest that there is linkage disequilibrium between this polymorphism and PKU mutations in the PAH gene; approximately 10% of defect PAH alleles in the Chinese population may be identified with this sequence polymorphic marker.
通过DNA序列分析，在中国人群中已鉴定出苯丙氨酸羟化酶（PAH）基因第11外显子密码子399处的一个沉默突变或序列多态性，即A到T的替换。基于对100名表面正常个体和39名苯丙酮尿症（PKU）患者的分析，通过聚合酶链反应（PCR）和寡核苷酸杂交方法进行DNA扩增表明，这种新突变在正常基因和异常（苯丙酮尿症：PKU）基因中的频率分别为0.005和0.09。结果表明，这种多态性与PAH基因中的PKU突变之间存在连锁不平衡；在中国人群中，约10%的缺陷PAH等位基因可能通过该序列多态性标记得以鉴定。
