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Alibakhshi, Reza, Moradi, Keivan, Biglari, Mostafa, Shafieenia, Samaneh. (1397). Spectrum of Phenylalanine Hydroxylase Gene Mutations in Hamadan and Lorestan Provinces of Iran and Their Associations with Variable Number of Tandem Repeat Alleles. سامانه مدیریت نشریات علمی, 43(3), 318-323. doi: 10.30476/ijms.2018.40537
Reza Alibakhshi; Keivan Moradi; Mostafa Biglari; Samaneh Shafieenia. "Spectrum of Phenylalanine Hydroxylase Gene Mutations in Hamadan and Lorestan Provinces of Iran and Their Associations with Variable Number of Tandem Repeat Alleles". سامانه مدیریت نشریات علمی, 43, 3, 1397, 318-323. doi: 10.30476/ijms.2018.40537
Alibakhshi, Reza, Moradi, Keivan, Biglari, Mostafa, Shafieenia, Samaneh. (1397). 'Spectrum of Phenylalanine Hydroxylase Gene Mutations in Hamadan and Lorestan Provinces of Iran and Their Associations with Variable Number of Tandem Repeat Alleles', سامانه مدیریت نشریات علمی, 43(3), pp. 318-323. doi: 10.30476/ijms.2018.40537
Alibakhshi, Reza, Moradi, Keivan, Biglari, Mostafa, Shafieenia, Samaneh. Spectrum of Phenylalanine Hydroxylase Gene Mutations in Hamadan and Lorestan Provinces of Iran and Their Associations with Variable Number of Tandem Repeat Alleles. سامانه مدیریت نشریات علمی, 1397; 43(3): 318-323. doi: 10.30476/ijms.2018.40537

Spectrum of Phenylalanine Hydroxylase Gene Mutations in Hamadan and Lorestan Provinces of Iran and Their Associations with Variable Number of Tandem Repeat Alleles

Iranian Journal of Medical Sciences
مقاله 10، دوره 43، شماره 3، مرداد 2018، صفحه 318-323    اصل مقاله (265.13 K)
نوع مقاله: Brief Report(s)
شناسه دیجیتال (DOI): 10.30476/ijms.2018.40537
نویسندگان
Reza Alibakhshi* 1؛ Keivan Moradi2؛ Mostafa Biglari3؛ Samaneh Shafieenia3
1Department of Biochemistry, School of Medicine, Kermanshah University of Medical Sciences, Kermanshah, Iran
2Medical Biology Research Center, Kermanshah University of Medical Sciences, Kermanshah, Iran
3Medical genetics laboratory, Kermanshah University of Medical Sciences, Kermanshah, Iran
چکیده
Phenylketonuria (PKU) is one of the most common known inherited metabolic diseases. The present study aimed to investigate the status of molecular defects in phenylalanine hydroxylase (PAH) gene in western Iranian PKU patients (predominantly from Kermanshah, Hamadan, and Lorestan provinces) during 2014-2016. Additionally, the results were compared with similar studies in Iran. Nucleotide sequence analysis of all 13 exons and their flanking intronic regions of the PAH gene was performed in 18 western Iranian PKU patients. Moreover, a variable number of tandem repeat (VNTR) located in the PAH gene was studied. The results revealed a mutational spectrum encompassing 11 distinct mutations distributed along the PAH gene sequence on 34 of the 36 mutant alleles (diagnostic efficiency of 94.4%). Also, four PAH VNTR alleles (with repeats of 3, 7, 8 and 9) were detected. The three most frequent mutations were IVS9+5G>A, IVS7-5T>C, and p.P281L with the frequency of 27.8%, 11%, and 11%, respectively. The results showed that there is not only a consanguineous relation, but also a difference in PAH characters of mutations between Kermanshah and the other two parts of western Iran (Hamadan and Lorestan). Also, it seems that the spectrum of mutations in western Iran is relatively distinct from other parts of the country, suggesting that this region might be a special PAH gene distribution region. Moreover, our findings can be useful in the identification of genotype to phenotype relationship in patients, and provide future abilities for confirmatory diagnostic testing, prognosis, and predict the severity of PKU patients.
کلیدواژه‌ها
Phenylketonurias؛ Phenylalanine hydroxylase؛ Variable number of tandem repeats؛ Iran
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