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Iranian Journal of Basic Medical Sciences، جلد ۱۸، شماره ۷، صفحات ۶۴۹-۶۵۳
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| عنوان فارسی |
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| چکیده فارسی مقاله |
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| کلیدواژه‌های فارسی مقاله |
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| عنوان انگلیسی |
Mutation analysis of the phenylalanine hydroxylase gene in Azerbaijani population, a report from West Azerbaijan province of Iran |
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| چکیده انگلیسی مقاله |
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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| کلیدواژه‌های انگلیسی مقاله |
Mutation, PAH, PKU |
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| نویسندگان مقاله |
مرتضی باقری | morteza bagheri
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
سازمان اصلی تایید شده: دانشگاه علوم پزشکی ارومیه (Urmia university of medical sciences)
عیسی عبدی راد | isa abdi rad
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
سازمان اصلی تایید شده: دانشگاه علوم پزشکی ارومیه (Urmia university of medical sciences)
نیما حسینی جزنی | nima hosseini jazani
food and beverages safety research center, urmia university of medical sciences, urmia, iran
سازمان اصلی تایید شده: دانشگاه علوم پزشکی ارومیه (Urmia university of medical sciences)
رسول زرین | rasoul zarrin
food and beverages safety research center, urmia university of medical sciences, urmia, iran
سازمان اصلی تایید شده: دانشگاه علوم پزشکی ارومیه (Urmia university of medical sciences)
احد قضاوی | ahad ghazavi
neurophysiology research center, urmia university of medical sciences, urmia, iran
سازمان اصلی تایید شده: دانشگاه علوم پزشکی ارومیه (Urmia university of medical sciences)
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| نشانی اینترنتی |
http://ijbms.mums.ac.ir/article_4645.html |
| فایل مقاله |
اشکال در دسترسی به فایل - ./files/site1/rds_journals/87/article-87-45225.pdf |
| کد مقاله (doi) |
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| زبان مقاله منتشر شده |
en |
| موضوعات مقاله منتشر شده |
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| نوع مقاله منتشر شده |
Original Article |
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