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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 IVS10nt-11 (c.1066-11g>a) and IVS11nt1 g>c (c.1199+1g>c) mutations in six samplesPCR products (357 bp) were digested with DdeI. The presence of IVS11nt1 g>c mutation naturally produces restriction site for DdeI enzyme. Individuals homozygous for normal sequence regarding IVS11nt1 g>c mutation show a single un-cut band of 357 bp. Individuals homozygous for IVS11nt1 g>c mutation show two bands of 244- and 113- bp. Individuals heterozygous for IVS11nt1 g>c mutation show three bands of 357-, 244- and 113- bp. As well as, individuals homozygous for normal sequence regarding IVS10nt-11 mutation show a single un-cut band of 357 bp. Individuals homozygous for IVS10nt-11 mutation show two bands of 261- and 96- bp. Individuals heterozygous for IVS10nt-11 (c.1066-11G>A) mutation show three bands of 357-, 261- and 96- bpLane M: 50 bp marker (Fermentas). Lanes 1: Homozygous for IVS10nt-11 g>a mutation. Lanes 2: Homozygous for IVS11nt1 g>c mutation. Lanes 3 and 5: Without mutation. Lanes 4 and 6: Heterozygous for IVS10nt-11 g>a mutation
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Figure 1: Detection of IVS10nt-11 (c.1066-11g>a) and IVS11nt1 g>c (c.1199+1g>c) mutations in six samplesPCR products (357 bp) were digested with DdeI. The presence of IVS11nt1 g>c mutation naturally produces restriction site for DdeI enzyme. Individuals homozygous for normal sequence regarding IVS11nt1 g>c mutation show a single un-cut band of 357 bp. Individuals homozygous for IVS11nt1 g>c mutation show two bands of 244- and 113- bp. Individuals heterozygous for IVS11nt1 g>c mutation show three bands of 357-, 244- and 113- bp. As well as, individuals homozygous for normal sequence regarding IVS10nt-11 mutation show a single un-cut band of 357 bp. Individuals homozygous for IVS10nt-11 mutation show two bands of 261- and 96- bp. Individuals heterozygous for IVS10nt-11 (c.1066-11G>A) mutation show three bands of 357-, 261- and 96- bpLane M: 50 bp marker (Fermentas). Lanes 1: Homozygous for IVS10nt-11 g>a mutation. Lanes 2: Homozygous for IVS11nt1 g>c mutation. Lanes 3 and 5: Without mutation. Lanes 4 and 6: Heterozygous for IVS10nt-11 g>a 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 IVS10nt-11 (c.1066-11g>a) and IVS11nt1 g>c (c.1199+1g>c) mutations in six samplesPCR products (357 bp) were digested with DdeI. The presence of IVS11nt1 g>c mutation naturally produces restriction site for DdeI enzyme. Individuals homozygous for normal sequence regarding IVS11nt1 g>c mutation show a single un-cut band of 357 bp. Individuals homozygous for IVS11nt1 g>c mutation show two bands of 244- and 113- bp. Individuals heterozygous for IVS11nt1 g>c mutation show three bands of 357-, 244- and 113- bp. As well as, individuals homozygous for normal sequence regarding IVS10nt-11 mutation show a single un-cut band of 357 bp. Individuals homozygous for IVS10nt-11 mutation show two bands of 261- and 96- bp. Individuals heterozygous for IVS10nt-11 (c.1066-11G>A) mutation show three bands of 357-, 261- and 96- bpLane M: 50 bp marker (Fermentas). Lanes 1: Homozygous for IVS10nt-11 g>a mutation. Lanes 2: Homozygous for IVS11nt1 g>c mutation. Lanes 3 and 5: Without mutation. Lanes 4 and 6: Heterozygous for IVS10nt-11 g>a mutation
© Copyright Policy - open-access
Related In: Results  -  Collection

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

Figure 1: Detection of IVS10nt-11 (c.1066-11g>a) and IVS11nt1 g>c (c.1199+1g>c) mutations in six samplesPCR products (357 bp) were digested with DdeI. The presence of IVS11nt1 g>c mutation naturally produces restriction site for DdeI enzyme. Individuals homozygous for normal sequence regarding IVS11nt1 g>c mutation show a single un-cut band of 357 bp. Individuals homozygous for IVS11nt1 g>c mutation show two bands of 244- and 113- bp. Individuals heterozygous for IVS11nt1 g>c mutation show three bands of 357-, 244- and 113- bp. As well as, individuals homozygous for normal sequence regarding IVS10nt-11 mutation show a single un-cut band of 357 bp. Individuals homozygous for IVS10nt-11 mutation show two bands of 261- and 96- bp. Individuals heterozygous for IVS10nt-11 (c.1066-11G>A) mutation show three bands of 357-, 261- and 96- bpLane M: 50 bp marker (Fermentas). Lanes 1: Homozygous for IVS10nt-11 g>a mutation. Lanes 2: Homozygous for IVS11nt1 g>c mutation. Lanes 3 and 5: Without mutation. Lanes 4 and 6: Heterozygous for IVS10nt-11 g>a 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