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Arianfar, Farzane, Dastsooz, Hassan, Vahedi, Nazanin, Fadaei, Zeinab, Imanieh, Mohammad Hadi, Dehghani, Seyed Mohsen, Haghighat, Mahmood, Moini, Maryam, Fardaei, Majid. (1394). Common Polymorphisms of ATP7B Gene as a Good Marker in Linkage Analysis in Wilson Disease Patients from Southern Iran. سامانه مدیریت نشریات علمی, 1(1), 30-34. doi: 10.18869/nrip.jamsat.1.1.30
Farzane Arianfar; Hassan Dastsooz; Nazanin Vahedi; Zeinab Fadaei; Mohammad Hadi Imanieh; Seyed Mohsen Dehghani; Mahmood Haghighat; Maryam Moini; Majid Fardaei. "Common Polymorphisms of ATP7B Gene as a Good Marker in Linkage Analysis in Wilson Disease Patients from Southern Iran". سامانه مدیریت نشریات علمی, 1, 1, 1394, 30-34. doi: 10.18869/nrip.jamsat.1.1.30
Arianfar, Farzane, Dastsooz, Hassan, Vahedi, Nazanin, Fadaei, Zeinab, Imanieh, Mohammad Hadi, Dehghani, Seyed Mohsen, Haghighat, Mahmood, Moini, Maryam, Fardaei, Majid. (1394). 'Common Polymorphisms of ATP7B Gene as a Good Marker in Linkage Analysis in Wilson Disease Patients from Southern Iran', سامانه مدیریت نشریات علمی, 1(1), pp. 30-34. doi: 10.18869/nrip.jamsat.1.1.30
Arianfar, Farzane, Dastsooz, Hassan, Vahedi, Nazanin, Fadaei, Zeinab, Imanieh, Mohammad Hadi, Dehghani, Seyed Mohsen, Haghighat, Mahmood, Moini, Maryam, Fardaei, Majid. Common Polymorphisms of ATP7B Gene as a Good Marker in Linkage Analysis in Wilson Disease Patients from Southern Iran. سامانه مدیریت نشریات علمی, 1394; 1(1): 30-34. doi: 10.18869/nrip.jamsat.1.1.30

Common Polymorphisms of ATP7B Gene as a Good Marker in Linkage Analysis in Wilson Disease Patients from Southern Iran

Journal of Advanced Medical Sciences and Applied Technologies
مقاله 4، دوره 1، شماره 1، آذر 2015، صفحه 30-34    اصل مقاله (378.98 K)
نوع مقاله: Original Articles
شناسه دیجیتال (DOI): 10.18869/nrip.jamsat.1.1.30
نویسندگان
Farzane Arianfar1؛ Hassan Dastsooz1؛ Nazanin Vahedi1؛ Zeinab Fadaei1؛ Mohammad Hadi Imanieh2؛ Seyed Mohsen Dehghani؛ Mahmood Haghighat2؛ Maryam Moini3؛ Majid Fardaei* 4
1Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran
2Shiraz Transplant Research Center, Gastroenterohepatology Research Center, Namazi Teaching Hospital, Shiraz University of Medical Sciences, Shiraz, Iran
3Department of Internal Medicine, Gastroenterology and Hepatology Research Center, Shiraz U
4Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz; Stem Cell and Transgenic Technology Research Center, Shiraz University of Medical Sciences, Shiraz, IR Iran; Department of Molecular Medicine, School of Advanced Medical Sciences and Technologies, Shiraz University of Medical Sciences, Shiraz, Iran
چکیده
Background: Wilson disease (WD) is caused by numerous pathogenic mutations of the ATP7B gene. There are several mutation screening methods that can be used for the diagnosis and carrier detection of WD, however such methods are costly and time-consuming. Therefore, other diagnostic methods should be used for urgent situations such as prenatal diagnosis. Objective: To report common polymorphisms of ATP7B gene in WD patients from southern Iran to be use in linkage analysis in the WD affected families. Material and methods: Genomic DNA was extracted from 30 patients and PCR was carried out for ATP7B gene. DHPLC was then performed and PCR products with abnormal peak profiles were subjected to direct DNA sequencing. Result: Several patients showed abnormal peak profiles in DHPLC analysis and subsequent sequencing results demonstrated that some polymorphisms were more common in southern Iran. Those were c.1216T>G (exon 2), c.1366C>G (exon 3), c.3419 T>C (exon 16), c.3903 + 6C>T (intron 18) and c.4021+50G>C (intron 19). Conclusion: These common polymorphisms can be used by linkage analysis for the prenatal diagnosis and carrier detection in affected families with Wilson disease.
کلیدواژه‌ها
ATP7B؛ Wilson disease؛ Single Nucleotide Polymorphism؛ DHPLC
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