Razipour Masoumeh, Kooshavar Daniz, Alavinejad Elaheh, Sajedi Seyede Zahra, Mohajer Neda, Setoodeh Aria, Talebi Saeed, Keramatipour Mohammad
Dept. of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
Dept. of Medical Genetics, School of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran.
Iran J Public Health. 2017 Apr;46(4):560-564.
Phenylketonuria (PKU) is an inborn error of amino acid metabolism with an autosomal recessive inheritance caused in most cases by mutations in the phenylalanine hydroxylase (PAH) gene. PKU has wide allelic heterogeneity. Here we report a novel heterozygous substitution (c.1223G>T (p.Arg408Leu)) in the PAH gene in an Iranian PKU family. The patient was 19-yr-old female with diagnosis of moderate PKU referred to Department of Medical Genetics, Tehran University of Medical Sciences, Tehran, Iran for genetic counseling/analysis in April 2015. We used PCR-Sequencing to identify any sequence variations in the PAH gene.
苯丙酮尿症（PKU）是一种氨基酸代谢的先天性疾病，呈常染色体隐性遗传，多数情况下由苯丙氨酸羟化酶（PAH）基因突变所致。PKU具有广泛的等位基因异质性。在此，我们报告一个伊朗PKU家族中PAH基因的一种新型杂合性替代突变（c.1223G>T (p.Arg408Leu)）。该患者为一名19岁女性，被诊断为中度PKU，于2015年4月转诊至伊朗德黑兰德黑兰医科大学医学遗传学系进行遗传咨询/分析。我们采用聚合酶链反应测序法来鉴定PAH基因中的任何序列变异。
