Dataset Information

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

SUBMITTER: Bagheri M

PROVIDER: S-EPMC4556756 | biostudies-literature | 2015 Jul

REPOSITORIES: biostudies-literature

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

Bagheri Morteza M Rad Isa Abdi IA Jazani Nima Hosseini NH Zarrin Rasoul R Ghazavi Ahad A

Iranian journal of basic medical sciences 20150701 7

<h4>Objectives</h4>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.<h4>Materials and methods</h4>A total of 218 alleles from 40 PKU families were studied using restriction fragment length polymorphism-polymerase chain rea ...[more]

PMID: 26351554

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Project description:BackgroundThe present study aims to investigate one of the major causes of traffic accidents: drivers' unsafe behaviors while driving.MethodsIn this cross-sectional study, the behaviors of 946 drivers at traffic lights were observed in the morning, at noon, and in the evening using direct in-field observation. The unsafe behaviors of the drivers included not fastening the seat belt, using a cellphone or handsfree device, smoking, being distracted by a child, talking with passengers, not observing the stop line, eating and drinking, and getting out of the car, letting out a passenger, or arguing with a passenger at the traffic light.ResultsOf the drivers at the traffic light, 60% did not obey the stop line, and 72% did not fasten their seat belt. Also, 13.6% used their cellphones, and 22% talked with passengers. The frequency of the other unsafe behaviors was <3%. For wearing seat belts, drivers aged 41-50 years wore seat belts almost five times more than drivers under 25 years of age (4.94 [2.36-10.320]; p < 0.001), and drivers aged 50 years and older were almost three times likelier to wear seat belts than drivers under 25 years of age (2.8 [1.31-6.08]; p < 0.001). The results showed that the drivers were significantly likelier to wear seat belts on Saturdays (after the weekend) (0.56 [0.40-0.78]; p = 0.001). Regarding using mobile phones while driving, women were twice as likely to use mobile phones as men (2.20 [1.30-3.72]; p < 0.001). Drivers aged 26-40 years used mobile phones significantly less than drivers under 25 years of age (0.24 [0.14-0.43]; p < 0.001) and drivers aged 41-50 years were significantly less likely to use mobile phones than drivers under 25 years of age (0.19 [1.31-6.08]; p < 0.001).ConclusionThe results showed that the occurrence of wearing a seat belt in Shahin Dej was low. We observed a significant association between wearing a seat belt, age, whether it was Saturday (a day after weekend for Iranians). Additionally, similar associations were observed between using mobile phones and gender, age, and day of the week.

Dataset Information

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

Publications

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

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