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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。
Objective To detect the mutation of phenylalanine hydroxylase (PAH) gene in one case of hyperphenylalaninemia and its parents, and analyze its genotype, phenotype and genetics. Methods The peripheral blood samples and clinical data of patients and parents were collected, and DNA was extracted. At the same time, 120 human normal controls were selected to amplify the PAH gene coding region, and the mutation was analyzed by direct sequencing. Results The patients were heterozygous mutations of PAH gene L367R / F392I and parents were heterozygous mutations of PA392I and L367R respectively. Missense mutation L367R is a new mutation not reported. Conclusion PAH gene mutation L367R / F392I compound heterozygous mutations in patients with high phenylalaninemia, both parents are heterozygous mutation carriers. The results of genetic tests provide a reference for clinical diagnosis and selection of appropriate treatment plans, and may help to guide further fertility.