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

摘要： 目的 检测1例高苯丙氨酸血症患者及其父母的苯丙氨酸羟化酶(PAH)基因突变,分析其基因型、表型和遗传学特征。方法 收集患者和父母外周血样本和临床资料,提取DNA,同时选取120人为正常对照组,扩增PAH基因编码区,并以直接测序法进行突变分析。结果 患者为PAH基因L367R/F392I复合杂合突变,父母分别为PAH基因F392I和L367R杂合突变。错义突变L367R属未见报道的新突变。结论 PAH基因突变L367R/F392I复合杂合突变引起患者高苯丙氨酸血症,其父母均为杂合突变的携带者。基因检查的结果为临床诊断和选择合适的治疗方案提供参考,并且可为进一步生育指导提供帮助。

关键词: 高苯丙氨酸血症, 苯丙氨酸羟化酶, 突变, 遗传