MUTATION ANALYSIS OF THE PHENYLALANINE HYDROXYLASE GENE IN AZERBAIJANI POPULATION, A REPORT FROM WEST AZERBAIJAN PROVINCE OF IRAN

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BAGHERI MORTEZA; ABDIRAD ISA; HOSSEINI JAZANI NIMA; ZARRIN RASOUL; GHAZAVI AHAD

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Journal: Iranian Journal of Basic Medical Sciences Year:2015 | Volume:18 | Issue:7 Page(s): 649-653

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Title

MUTATION ANALYSIS OF THE PHENYLALANINE HYDROXYLASE GENE IN AZERBAIJANI POPULATION, A REPORT FROM WEST AZERBAIJAN PROVINCE OF IRAN

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Keywords

MUTATION

PAH

PKU

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 218 alleles from 40 PKU families were studied using restriction fragment length polymorphism‐polymerase chain reaction (RFLP‐PCR) method.Results: The frequencies of IVS10‐11, S67P, R261Q, R252W, IVS11nt‐1 g>c, R408Q, and Q232Q MUTATIONs were 28 (35), 17 (21.25), 15 (18.75), 3 (3.75), 3 (3.75), 2 (2.5), and 1 (1.25), in cases group, and 51 (23.4), 31 (14.2), 27 (12.4), 6 (2.75), 6 (2.75), 4 (1.83), and 2 (0.92) in total group, respectively. The MUTATIONs of R243Q, 364delG, L333F, 261X, I65T, and R408W were not detected in our samples.Conclusion: It can be concluded that the IVS10‐11 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.

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APA: Copy

BAGHERI, MORTEZA, ABDIRAD, ISA, HOSSEINI JAZANI, NIMA, ZARRIN, RASOUL, & GHAZAVI, AHAD. (2015). MUTATION ANALYSIS OF THE PHENYLALANINE HYDROXYLASE GENE IN AZERBAIJANI POPULATION, A REPORT FROM WEST AZERBAIJAN PROVINCE OF IRAN. IRANIAN JOURNAL OF BASIC MEDICAL SCIENCES, 18(7), 649-653. SID. https://sid.ir/paper/668055/en

Vancouver: Copy

BAGHERI MORTEZA, ABDIRAD ISA, HOSSEINI JAZANI NIMA, ZARRIN RASOUL, GHAZAVI AHAD. MUTATION ANALYSIS OF THE PHENYLALANINE HYDROXYLASE GENE IN AZERBAIJANI POPULATION, A REPORT FROM WEST AZERBAIJAN PROVINCE OF IRAN. IRANIAN JOURNAL OF BASIC MEDICAL SCIENCES[Internet]. 2015;18(7):649-653. Available from: https://sid.ir/paper/668055/en

IEEE: Copy

MORTEZA BAGHERI, ISA ABDIRAD, NIMA HOSSEINI JAZANI, RASOUL ZARRIN, and AHAD GHAZAVI, “MUTATION ANALYSIS OF THE PHENYLALANINE HYDROXYLASE GENE IN AZERBAIJANI POPULATION, A REPORT FROM WEST AZERBAIJAN PROVINCE OF IRAN,” IRANIAN JOURNAL OF BASIC MEDICAL SCIENCES, vol. 18, no. 7, pp. 649–653, 2015, [Online]. Available: https://sid.ir/paper/668055/en

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