Detection of sequence mutations in phenylalanine hydroxylase (PAH) gene isolated from Egyptian Phenylketonuria (PKU) patients

Ghada Shebl, H. S. Ahmed, A. Kato, H. Dawoud, M. Hamza, A. Haider
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引用次数: 2

Abstract

Phenylketonuria (PKU) is a relatively common autosomal recessive disorder. The frequency of PKU among Caucasians populations is approximately 1:10.000. PKU is primarily a consequence of a deficiency in phenylalanine hydroxylase (PAH) activity, and un-treated PKU patients develop severe mental retardation. The absence of this enzymatic activity causes disturbances in tyrosine and tryptophan metabolism and diminished formation of catecholamine (dopamine), melanin and serotonin. In the present study, nucleotide sequence mutations were examined and detected in Egyptian phenylketonuria (PKU) patients. Total genomic DNA was extracted from the blood of six PKU patients and specific PAH primers were used to amplify genomic DNA fragments. Nucleotide sequences were processed using Human Splicing Finder software to remove introns and predict cDNAs. Processed cDNA sequences were aligned with reference sequence in the GenBank and healthy control for detection of mutations. The results indicated different sequence polymorphism, which can cause mild or severe mutations. The severity of sequence mutation was correlated with the accumulation of phenylalanine amino acid in the blood. This study is an attempt to early detection of PAH mutations, to control phenylketonuria genetic disorder in Egyptian population.
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埃及苯丙酮尿症(PKU)患者苯丙氨酸羟化酶(PAH)基因序列突变检测
苯丙酮尿症(PKU)是一种较为常见的常染色体隐性遗传病。在高加索人群中,PKU的发病率约为1:10 000。PKU主要是苯丙氨酸羟化酶(PAH)活性缺乏的结果,未经治疗的PKU患者会出现严重的智力迟钝。缺乏这种酶活性会导致酪氨酸和色氨酸代谢紊乱,儿茶酚胺(多巴胺)、黑色素和血清素的形成减少。在本研究中,对埃及苯丙酮尿症(PKU)患者的核苷酸序列突变进行了检测。从6例PKU患者的血液中提取总基因组DNA,并使用特异性PAH引物扩增基因组DNA片段。使用Human Splicing Finder软件处理核苷酸序列以去除内含子并预测cdna。处理后的cDNA序列与GenBank和健康对照中的参考序列比对,用于检测突变。结果表明,不同的序列多态性可引起轻微或严重的突变。序列突变的严重程度与血液中苯丙氨酸的积累有关。本研究旨在早期检测多环芳烃突变,控制埃及人群的苯丙酮尿遗传疾病。
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