E-ISSN 2090-0503 | ISSN 1687-7497
 

Original Research 


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

Ghada Shebl, Hanan Sayed Ahmed, Abdallah Kato, Heba Dawoud, Mohamed Hamza, Ashraf Haider.

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.

Key words: Phenylketonuria (PKU), phenylalanine hydroxylase (PAH), Phenylalanine.


 
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How to Cite this Article
Pubmed Style

Shebl G, Ahmed HS, Kato A, Dawoud H, Hamza M, Haider A. Detection of sequence mutations in phenylalanine hydroxylase (PAH) gene isolated from Egyptian Phenylketonuria (PKU) patients. Egypt. J. Exp. Biol. (Bot.). 2019; 15(2): 295-301. doi:10.5455/egyjebb.20190804010102


Web Style

Shebl G, Ahmed HS, Kato A, Dawoud H, Hamza M, Haider A. Detection of sequence mutations in phenylalanine hydroxylase (PAH) gene isolated from Egyptian Phenylketonuria (PKU) patients. http://www.egyseb.net//?mno=59935 [Access: November 14, 2019]. doi:10.5455/egyjebb.20190804010102


AMA (American Medical Association) Style

Shebl G, Ahmed HS, Kato A, Dawoud H, Hamza M, Haider A. Detection of sequence mutations in phenylalanine hydroxylase (PAH) gene isolated from Egyptian Phenylketonuria (PKU) patients. Egypt. J. Exp. Biol. (Bot.). 2019; 15(2): 295-301. doi:10.5455/egyjebb.20190804010102



Vancouver/ICMJE Style

Shebl G, Ahmed HS, Kato A, Dawoud H, Hamza M, Haider A. Detection of sequence mutations in phenylalanine hydroxylase (PAH) gene isolated from Egyptian Phenylketonuria (PKU) patients. Egypt. J. Exp. Biol. (Bot.). (2019), [cited November 14, 2019]; 15(2): 295-301. doi:10.5455/egyjebb.20190804010102



Harvard Style

Shebl, G., Ahmed, . H. S., Kato, . A., Dawoud, . H., Hamza, . M. & Haider, . A. (2019) Detection of sequence mutations in phenylalanine hydroxylase (PAH) gene isolated from Egyptian Phenylketonuria (PKU) patients. Egypt. J. Exp. Biol. (Bot.), 15 (2), 295-301. doi:10.5455/egyjebb.20190804010102



Turabian Style

Shebl, Ghada, Hanan Sayed Ahmed, Abdallah Kato, Heba Dawoud, Mohamed Hamza, and Ashraf Haider. 2019. Detection of sequence mutations in phenylalanine hydroxylase (PAH) gene isolated from Egyptian Phenylketonuria (PKU) patients. THE EGYPTIAN JOURNAL OF EXPERIMENTAL BIOLOGY (Botany), 15 (2), 295-301. doi:10.5455/egyjebb.20190804010102



Chicago Style

Shebl, Ghada, Hanan Sayed Ahmed, Abdallah Kato, Heba Dawoud, Mohamed Hamza, and Ashraf Haider. "Detection of sequence mutations in phenylalanine hydroxylase (PAH) gene isolated from Egyptian Phenylketonuria (PKU) patients." THE EGYPTIAN JOURNAL OF EXPERIMENTAL BIOLOGY (Botany) 15 (2019), 295-301. doi:10.5455/egyjebb.20190804010102



MLA (The Modern Language Association) Style

Shebl, Ghada, Hanan Sayed Ahmed, Abdallah Kato, Heba Dawoud, Mohamed Hamza, and Ashraf Haider. "Detection of sequence mutations in phenylalanine hydroxylase (PAH) gene isolated from Egyptian Phenylketonuria (PKU) patients." THE EGYPTIAN JOURNAL OF EXPERIMENTAL BIOLOGY (Botany) 15.2 (2019), 295-301. Print. doi:10.5455/egyjebb.20190804010102



APA (American Psychological Association) Style

Shebl, G., Ahmed, . H. S., Kato, . A., Dawoud, . H., Hamza, . M. & Haider, . A. (2019) Detection of sequence mutations in phenylalanine hydroxylase (PAH) gene isolated from Egyptian Phenylketonuria (PKU) patients. THE EGYPTIAN JOURNAL OF EXPERIMENTAL BIOLOGY (Botany), 15 (2), 295-301. doi:10.5455/egyjebb.20190804010102