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

Bagheri M, Rad IA, Jazani NH, Zarrin R, Ghazavi A - Iran J Basic Med Sci (2015)

Bottom Line: The mutations of R243Q, 364delG, L333F, 261X, I65T, and R408W were not detected in our samples.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.

View Article: PubMed Central - PubMed

Affiliation: Food and Beverages Safety Research Center, Urmia University of Medical Sciences, Urmia, Iran ; Genetics Department, Urmia University of Medical Sciences, Urmia, Iran ; Cellular and Molecular Research Center, Urmia University of Medical Sciences, Urmia, Iran.

ABSTRACT

Objectives: 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.

No MeSH data available.


Related in: MedlinePlus

Detection of R261Q mutation in 7 samples. PCR products (285 bp) were digested with HinfI. The presence of R261Q mutation removes restriction site for HinfI enzyme. Individuals homozygous for R261Q mutation show a single un-cut band of 285 bp. Individuals heterozygous for R261Q mutation show two bands of 285 and 123 bpLane M: 50 bp marker (Fermentas). Lanes 1,2,4,5 &6: Without R261Q mutation. Lane 3: Heterozygous for R261Q mutation. Lane 7: Homozygous for R261Q mutation
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Figure 2: Detection of R261Q mutation in 7 samples. PCR products (285 bp) were digested with HinfI. The presence of R261Q mutation removes restriction site for HinfI enzyme. Individuals homozygous for R261Q mutation show a single un-cut band of 285 bp. Individuals heterozygous for R261Q mutation show two bands of 285 and 123 bpLane M: 50 bp marker (Fermentas). Lanes 1,2,4,5 &6: Without R261Q mutation. Lane 3: Heterozygous for R261Q mutation. Lane 7: Homozygous for R261Q mutation


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

Bagheri M, Rad IA, Jazani NH, Zarrin R, Ghazavi A - Iran J Basic Med Sci (2015)

Detection of R261Q mutation in 7 samples. PCR products (285 bp) were digested with HinfI. The presence of R261Q mutation removes restriction site for HinfI enzyme. Individuals homozygous for R261Q mutation show a single un-cut band of 285 bp. Individuals heterozygous for R261Q mutation show two bands of 285 and 123 bpLane M: 50 bp marker (Fermentas). Lanes 1,2,4,5 &6: Without R261Q mutation. Lane 3: Heterozygous for R261Q mutation. Lane 7: Homozygous for R261Q mutation
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4556756&req=5

Figure 2: Detection of R261Q mutation in 7 samples. PCR products (285 bp) were digested with HinfI. The presence of R261Q mutation removes restriction site for HinfI enzyme. Individuals homozygous for R261Q mutation show a single un-cut band of 285 bp. Individuals heterozygous for R261Q mutation show two bands of 285 and 123 bpLane M: 50 bp marker (Fermentas). Lanes 1,2,4,5 &6: Without R261Q mutation. Lane 3: Heterozygous for R261Q mutation. Lane 7: Homozygous for R261Q mutation
Bottom Line: The mutations of R243Q, 364delG, L333F, 261X, I65T, and R408W were not detected in our samples.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.

View Article: PubMed Central - PubMed

Affiliation: Food and Beverages Safety Research Center, Urmia University of Medical Sciences, Urmia, Iran ; Genetics Department, Urmia University of Medical Sciences, Urmia, Iran ; Cellular and Molecular Research Center, Urmia University of Medical Sciences, Urmia, Iran.

ABSTRACT

Objectives: 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.

No MeSH data available.


Related in: MedlinePlus