Woo S L, DiLella A G, Marvit J, Ledley F D
Department of Cell Biology, Howard Hughes Medical Institute, Houston, Tex.
Enzyme. 1987;38(1-4):207-13. doi: 10.1159/000469206.
Mutations in the human phenylalanine hydroxylase gene associated with two prevalent mutant alleles have been identified and shown to be in linkage disequilibrium with the corresponding mutant restriction fragment length polymorphism haplotypes. These results suggest the possibility of carrier detection in the population without a prior family history of phenylketonuria (PKU). Furthermore, recombinant retroviruses containing the full-length human phenylalanine hydroxylase cDNA have been constructed and used to transduce functional enzymatic activity into cultured hepatoma cells. Together with the recent success in retroviral infection of primary mouse hepatocytes, it will be possible to use the mouse model to investigate somatic gene therapy for PKU.
已鉴定出与两种常见突变等位基因相关的人类苯丙氨酸羟化酶基因突变，并证明其与相应的突变限制性片段长度多态性单倍型处于连锁不平衡状态。这些结果表明，在没有苯丙酮尿症（PKU）家族病史的人群中进行携带者检测是有可能的。此外，已构建了包含全长人类苯丙氨酸羟化酶cDNA的重组逆转录病毒，并用于将功能性酶活性导入培养的肝癌细胞中。结合最近在原代小鼠肝细胞逆转录病毒感染方面的成功，将有可能利用小鼠模型研究PKU的体细胞基因治疗。
