Prevalence of 2 UGT1A1 gene variations related to gilbert’s syndrome in south of Iran : an epidemiological, clinical, and genetic study
المؤلفون المشاركون
Haydari, Muhammad Rida
Fardaei, Majid
Kadivar, Muhammad Rahim
Panjehshahin, Muhammad Rida
Bardeji, Zaynab Rida
Miri, Muhammad Rida
Zadah, Jamil Sabir
Rezaianzadeh, Abbas
المصدر
Iranian Red Crescent Medical Journal
العدد
المجلد 19، العدد 4 (30 إبريل/نيسان 2017)، ص ص. 1-7، 7ص.
الناشر
تاريخ النشر
2017-04-30
دولة النشر
الإمارات العربية المتحدة
عدد الصفحات
7
التخصصات الرئيسية
الملخص EN
Background: Gilbert’s syndrome can present as a chronic or benign asymptomatic condition, characterized by a slight increase in the serum bilirubin level without any hemolysis.
In 1995, a genetic variation, located in the TATA box of UGT1A1 gene promoter, was identified in patients with Gilbert’s syndrome.
Also, further analysis identified a new missense variation, Gly71Arg, within the codon region of UGT1A1 gene.
Coincidence of TATA box and Gly71Arg variations and their relationship with clinical findings are mostly variable.
Objectives: The aim of this study was to determine TATA box and Gly71Arg variations of UGT1A1 gene and assess their effects on clinical findings in patients with Gilbert’s syndrome in southern provinces of Iran.
Methods: In this cross sectional study, 213 unrelated infants and children, below 12 years, who were admitted to the pediatric ward of Namazi hospital, Shiraz, Iran, were enrolled from June 2015 to May 2016.
Blood-extracted DNA was used for genotyping TATA box and Gly71Arg variations by sequencing.
Further biochemical analyses were performed for each patient.
Results: About 78.9% of the studied subjects had normal homozygous genotypes, and 21.1% were heterozygous for the Gly71Arg variation.
In total, 34% of the cases were normal in the promoter region (TA6/6), and 55% were heterozygous with genotypes TA6/7, TA6/5, and TA 6/8.
Three combinations of genotypes, ie, TA6/7-Gly/Gly, TA7/7-Gly/Gly, and TA7/7-Gly/Arg, showed significant differences in the serum total bilirubin level.
Also, creatinine phosphokinase in TA6/7-Gly/Arg, TA7/7-Gly/Gly, and TA7/7-Gly/Arg had a significant increase.
Conclusions: The present findings showed that the TA7/7 promoter of UGT1A1 gene accounted for a considerable number of Gilbert’s syndrome cases (11.3%).
The studied variations had a significant effect on creatine phosphokinase and serum total bilirubin levels.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Haydari, Muhammad Rida& Fardaei, Majid& Kadivar, Muhammad Rahim& Rezaianzadeh, Abbas& Panjehshahin, Muhammad Rida& Bardeji, Zaynab Rida…[et al.]. 2017. Prevalence of 2 UGT1A1 gene variations related to gilbert’s syndrome in south of Iran : an epidemiological, clinical, and genetic study. Iranian Red Crescent Medical Journal،Vol. 19, no. 4, pp.1-7.
https://search.emarefa.net/detail/BIM-820687
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Haydari, Muhammad Rida…[et al.]. Prevalence of 2 UGT1A1 gene variations related to gilbert’s syndrome in south of Iran : an epidemiological, clinical, and genetic study. Iranian Red Crescent Medical Journal Vol. 19, no. 4 (Apr. 2017), pp.1-7.
https://search.emarefa.net/detail/BIM-820687
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Haydari, Muhammad Rida& Fardaei, Majid& Kadivar, Muhammad Rahim& Rezaianzadeh, Abbas& Panjehshahin, Muhammad Rida& Bardeji, Zaynab Rida…[et al.]. Prevalence of 2 UGT1A1 gene variations related to gilbert’s syndrome in south of Iran : an epidemiological, clinical, and genetic study. Iranian Red Crescent Medical Journal. 2017. Vol. 19, no. 4, pp.1-7.
https://search.emarefa.net/detail/BIM-820687
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references : p. 6-7
رقم السجل
BIM-820687
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
تقوم هذه الخدمة بالتحقق من التشابه أو الانتحال في الأبحاث والمقالات العلمية والأطروحات الجامعية والكتب والأبحاث باللغة العربية، وتحديد درجة التشابه أو أصالة الأعمال البحثية وحماية ملكيتها الفكرية. تعرف اكثر