关键词: 高苯丙氨酸血症, 苯丙氨酸羟化酶, 突变, 遗传

Abstract: Objective To test genetic mutations in phenylalanine hydroxylase (PAH) gene in a patient with hyperphenylalaninemia and her parents,and to investigate the genotype,phenotype and genetic features. Methods Blood samples and clinical data of the proband and her parents were collected.DNA was extracted from the blood samples.The PAH gene mutations were analyzed by polymerase chain reaction(PCR) and direct sequencing.Meanwhile,a total of 120 normal controls were collected. Results Compound heterozygous mutations PAH L367R and F392I were identified in the proband,heterozygous L367R was identified in the mother,heterozygous F392I was identified in the father.L367R was a novel mutation. Conclusion sThe PAH gene mutations L367R and F392I cause hyperphenylalaninemia in the proband,and her parents are carriers of the mutations.The gene testing will be helpful for clinical diagnosis,selecting of therapeutic regimen,and further guidance of procreation.

Key words: hyperphenylalaninemia, phenylalanine hydroxylase, mutation, heredity