意大利高苯丙氨酸血症患者中PAH基因的两种新型基因损伤及一种常见的BH4反应性突变
Two novel genetic lesions and a common BH4-responsive mutation of the PAH gene in Italian patients with hyperphenylalaninemia.
作者信息
Bardelli T, Donati M A, Gasperini S, Ciani F, Belli F, Blau N, Morrone A, Zammarchi E
机构信息
Metabolic and Neuromuscular Unit, Department of Pediatrics, University of Florence, Florence, Italy.
出版信息
Mol Genet Metab. 2002 Nov;77(3):260-6. doi: 10.1016/s1096-7192(02)00166-x.
Hyperphenylalaninemia (HPA), due to a deficiency of phenylalanine hydroxylase (PAH) enzyme, is caused by mutations in the PAH gene. Molecular analysis in 23 Italian patients with PAH deficiency identified two novel (P281R, L287V) and 20 previously described genetic lesions in the PAH gene. The detection of the A403V amino acid substitution in combination with null mutations in patients with BH4-responsive PAH deficiency leads us to correlate it with BH4 responsiveness.
高苯丙氨酸血症（HPA）是由于苯丙氨酸羟化酶（PAH）缺乏所致，由PAH基因突变引起。对23例PAH缺乏的意大利患者进行分子分析，在PAH基因中鉴定出两个新的（P281R、L287V）以及20个先前描述的基因损伤。在四氢生物蝶呤（BH4）反应性PAH缺乏患者中检测到A403V氨基酸替代并伴有无效突变，这使我们将其与BH4反应性相关联。
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