![](/images/graphics-bg.png)
Mutation profile of exon 14 and exon 21 of ATP7B gene in patients with wilson disease
العناوين الأخرى
طفرات الاكسونات 14 و 21 في جين ATP7B في المرضى المصابين بمرض و لسن
المؤلفون المشاركون
Abbas, Asil Abd al-Qadir
Karim, Khalid Hatim
al-Mayyah, Qasim Sharhan
Arif, Halah Samih
Shamran, Haydar Ahmad
المصدر
العدد
المجلد 13، العدد 3 (30 سبتمبر/أيلول 2016)، ص ص. 635-641، 7ص.
الناشر
تاريخ النشر
2016-09-30
دولة النشر
العراق
عدد الصفحات
7
التخصصات الرئيسية
الملخص EN
Wilson disease (WD) is an autosomal recessive disorder in ATP7B gene which encodes a copper-transporting ATPase.
This protein involves in the transport of copper into the plasma protein ceruloplasmin and in excretion of copper from the liver.
Large numbers of mutations in ATP7B gene were found to have a role in the pathogenesis of WD.
The variation in the clinical and biochemical features of the disease renders the diagnosis difficult task.
This study aimed to determine the mutations in exon14 and 21 of ATP7B gene in Iraqi patients with WD to be used for molecular diagnosis.A total of 35 patients with WD and other 10 apparently healthy individuals were recruited for this study.
Blood sample was obtained from each subject from which DNA was extracted and exon 14 and 21 were amplified with amplification refractory mutation system (ARMS) and conventional polymerase chain reaction using specific primers.
Direct sequencing was used to find out the mutations in these exons.Five novel mutations and one single nucleotide polymorphism (homozygous or heterozygous) were recorded, among which 3 silent (c.3133C>T, c.4194T>C and c.4302G>A), 1 missense (c.3181G>C) and 2 splice site mutations (IVS21+40delA and IVS21+23G>A).
The heterozygous mutation c.3133C>T was the most prevalent one among WD patients (40%).
For diagnostic purpose, these results strongly suggested the heterozygous mutation c.3133C>T could be exploited in combination with the other high prevalent mutations.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
al-Mayyah, Qasim Sharhan& Arif, Halah Samih& Shamran, Haydar Ahmad& Abbas, Asil Abd al-Qadir& Karim, Khalid Hatim. 2016. Mutation profile of exon 14 and exon 21 of ATP7B gene in patients with wilson disease. Medical Journal of Babylon،Vol. 13, no. 3, pp.635-641.
https://search.emarefa.net/detail/BIM-758835
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
al-Mayyah, Qasim Sharhan…[et al.]. Mutation profile of exon 14 and exon 21 of ATP7B gene in patients with wilson disease. Medical Journal of Babylon Vol. 13, no. 3 (2016), pp.635-641.
https://search.emarefa.net/detail/BIM-758835
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
al-Mayyah, Qasim Sharhan& Arif, Halah Samih& Shamran, Haydar Ahmad& Abbas, Asil Abd al-Qadir& Karim, Khalid Hatim. Mutation profile of exon 14 and exon 21 of ATP7B gene in patients with wilson disease. Medical Journal of Babylon. 2016. Vol. 13, no. 3, pp.635-641.
https://search.emarefa.net/detail/BIM-758835
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references : p. 640-641
رقم السجل
BIM-758835
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
![](/images/ebook-kashef.png)
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
![](/images/kashef-image.png)