应用DNA PCR法扩增检测苯丙酮尿症基因突变

SCREENING FOR PHENYLKETONURIA GENE MUTATION BY DNA AMPLIFICATION WITH THE POLYMERASE CHAIN REACTION

本文应用PCR和核酸杂交技术,在西安地区14例PKU患儿中检测了目前中国人中唯一确定引起PKU的PAH基因外显子3终止突变,结果发现这些患者的PAH基因均无终止突变,提示在我国有可能因PAH基因其它部位突变导致PKU的发生。我们体会DNA体外PCR扩增结合寡核苷酸探针点杂交方法可用于PKU的产前诊断和携带者检出。

Exon 3 termination mutation of phenylalanine hydroxylase (PAH) gene, the only identified one causing classical phenylketonuria (PKU) in Chinese, was detected in fourteen PKU children from Xi'an. The genomic DNA from these patients was amplified by polymerase chain reaction(PCR) and dot hybridied with specific oligonucleotide probes. This mutation is not present in any of these affected children, which indicates that phenylketonuria in Chinese may be caused by other mutations in phenylalanine hydroxylase locus. PCR amplification combining with oligonucleotide dot hybridization is technically feasible for prenatal diagnosis and carrier screening for PKU.