اختيار اللغة
وحدة البحوث الطبية العلاقات الثقافية شعبة ضمان الجودة و الأداء الجامعي وحدة التعليم الطبي و تطوير المناهج الدراسية لجنة التعضيد شعبة النشاطات الطلابية
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Mutational Analysis of exon 10 and exon 13 of ATP7B gene in patients with Wilson’s disease
حيدر أحمد شمران
Authors : Haidar A. Shamran, Ahdaf A. Jameel Subah J. Hamza,
Abstract Background: Wilson disease (WD) is a rare inherited autosomal recessive disorder of copper metabolism due to mutations a copper transporter gene (ATP7B), resulting in hepatic and neuropsychiatric manifestations. It is very difficult to rely upon clinical and traditional laboratory findings for diagnosis especially in the early stages of the disease. Aims: To determine the most common mutations in the exon 10 and exon 13 of ATP7B gene in Iraqi patients with WD. Subjects and Methods: A total of 35 patients with WD and 10 apparently healthy controls were recruited for this study. Whole blood and serum samples were collected from each subject. DNA was isolated for whole blood and the exon 10 and 13 were amplified with specific primers using PCR. PCR products were directly sequenced and the results were aligned to the published human genomic database using BLAST function. Serum samples were used for traditional laboratory investigations. Results: Seven different mutations have been recorded. These includes three nucleotide polymorphisms (SNPs): Lys832Arg, Pro840Leu and Thr991Thr with 22.86%, 25.71% and 4.29% frequencies respectively; two point mutations: Ala1003Val and Lys1010Arg which had 8.57% and 11.42% frequencies respectively and two fame-shift mutations: c.2977-2978insA and c.2457delA with frequency of 24.29% and 27.14% respectively among WD patients. Conclusions: These data strongly indicate that both c.2519C>T polymorphism and the frame-shift mutation c.2977-2978insA could be exploited in the development of molecular diagnosis of WD. Our research has enriched the mutation spectrum of the ATP7B gene in the Iraqi population and can serve as the basis for genetic counseling and clinical/prenatal diagnosis to prevent WD in iraq. However, further studies are required to find out the most prevalent mutations in other exons.

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1-9-2016