Mutation analysis of the phenylalanine hydroxylase gene in Azerbaijani population, a report from West Azerbaijan province of Iran

Publish Year: 1394
نوع سند: مقاله ژورنالی
زبان: English
View: 147

This Paper With 5 Page And PDF Format Ready To Download

  • Certificate
  • من نویسنده این مقاله هستم

استخراج به نرم افزارهای پژوهشی:

لینک ثابت به این Paper:

شناسه ملی سند علمی:

JR_IJBMS-18-7_004

تاریخ نمایه سازی: 3 آبان 1400

Abstract:

Objective(s):Phenylketonuria (PKU) is a genetic inborn error of phenylalanine (Phe) metabolism resulting from insufficiency in the hepatic enzyme, phenylalanine hydroxylase (PAH), which leads to elevated levels of Phe in the blood. The present study was carried out for mutation analysis of the PAH gene in West Azerbaijan province of Iran. Materials and Methods:A total of ۲۱۸ alleles from ۴۰ PKU families were studied using restriction fragment length polymorphism-polymerase chain reaction (RFLP-PCR) method. Results:The frequencies of IVS۱۰-۱۱, S۶۷P, R۲۶۱Q, R۲۵۲W, IVS۱۱nt-۱ g>c, R۴۰۸Q, and Q۲۳۲Q mutations were ۲۸(۳۵), ۱۷(۲۱.۲۵), ۱۵(۱۸.۷۵), ۳(۳.۷۵), ۳(۳.۷۵), ۲(۲.۵), and ۱(۱.۲۵), in cases group, and ۵۱(۲۳.۴), ۳۱(۱۴.۲), ۲۷(۱۲.۴), ۶(۲.۷۵), ۶(۲.۷۵), ۴(۱.۸۳), and ۲(۰.۹۲) in total group, respectively. The mutations of R۲۴۳Q, ۳۶۴delG, L۳۳۳F, ۲۶۱X, I۶۵T, and R۴۰۸W were not detected in our samples. Conclusion: It can be concluded that the IVS۱۰-۱۱ mutation has the highest frequency in the tested population. To our knowledge, this report is the first in its own kind and provides better understanding of the genetic heterogeneity, the origin and distributions of PAH mutations in West Azerbaijan province of Iran.

Keywords:

Authors

Morteza Bagheri

Food and Beverages Safety Research Center, Urmia University of Medical Sciences, Urmia, Iran

Isa Abdi Rad

Food and Beverages Safety Research Center, Urmia University of Medical Sciences, Urmia, Iran

Nima Hosseini Jazani

Food and Beverages Safety Research Center, Urmia University of Medical Sciences, Urmia, Iran

Rasoul Zarrin

Food and Beverages Safety Research Center, Urmia University of Medical Sciences, Urmia, Iran

Ahad Ghazavi

Neurophysiology Research Center, Urmia University of Medical Sciences, Urmia, Iran

مراجع و منابع این Paper:

لیست زیر مراجع و منابع استفاده شده در این Paper را نمایش می دهد. این مراجع به صورت کاملا ماشینی و بر اساس هوش مصنوعی استخراج شده اند و لذا ممکن است دارای اشکالاتی باشند که به مرور زمان دقت استخراج این محتوا افزایش می یابد. مراجعی که مقالات مربوط به آنها در سیویلیکا نمایه شده و پیدا شده اند، به خود Paper لینک شده اند :
  • ۱.Dworniczak B, Aulehla-Scholz C, Kalaydjieva L, Bartholome K, Grudda K, ...
  • ۲.Guthrie R, Susi A. A simple phenylalanine method for detecting ...
  • ۳.Rohr FJ, Allred EN, Turner M, Simmons J, Levy HL. ...
  • ۴.Vallian S, Barahimi E, Moeini H. Phenylketonuria in Iranian population: ...
  • ۵.Holmgren G, Larsson A, Palmstierna H, Alm J. The frequency ...
  • ۶.DiLella AG, Woo SL. Molecular basis of phenylketonuria and its ...
  • ۷.Scriver CR, Kaufman S. Hyperphenylalaninemia: phenylalanine hydroxylase deficiency. New York, ...
  • ۸.Fazeli Z, Vallian S. Phenylketonuria from genetics to clinics: An ...
  • ۹.Derenko M, Malyarchuk B, Bahmanimehr A, Denisova G, Perkova M, ...
  • ۱۰.Koochmeshgi J, Bagheri A, Hosseini-Mazinani SM. Incidence of phenylketonuria in ...
  • ۱۱.Khemir S, Siala H, Taieb SH, Cherif W, Azzouz H, ...
  • ۱۲.Miller SA, Dykes DD, Polesky HF. A simple salting out ...
  • ۱۳.Zschocke J, Graham CA, Carson DJ, Nevin NC. Phenylketonuria mutation ...
  • ۱۴.Guldberg P, Romano V, Ceratto N, Bosco P, Ciuna M, ...
  • ۱۵.Gable M, Williams M, Stephenson A, Okano Y, Ring S, ...
  • ۱۶.Bonyadi M, Omrani O, Moghanjoghi SM, Shiva S. Mutations of ...
  • ۱۷.Zare-Karizi Sh, Hosseini-Mazinani SM, Khazaei-Koohpar Z, Seifati SM, Shahsavan-Behboodi B, ...
  • ۱۸.Desviat LR, Perez B, Gutierrez E, Sanchez A, Barrios B, ...
  • ۱۹.Acosta AX, Silva WA, Carvalho TM, Zago MA. Ten novel ...
  • ۲۰.Ozgüç M, Ozalp I, Coşkun T, Yilmaz E, Erdem H, ...
  • ۲۱.Effat LK, Essawi ML, Abd El Hamid MS, Hawari N, ...
  • ۲۲.Berthelon M, Caillaud C, Rey F, Labrune P, Melle D, ...
  • ۲۳.Perez B, Desviat LR, Die M, Ugarte M. Mutation analysis ...
  • نمایش کامل مراجع