Iranian Journal of Basic Medical Sciences، جلد ۱۹، شماره ۸، صفحات ۸۵۸-۸۶۲

عنوان فارسی
چکیده فارسی مقاله
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عنوان انگلیسی A novel deletion and two recurrent substitutions on type VII collagen gene in seven Iranian patients with epidermolysis bullosa
چکیده انگلیسی مقاله Objective(s): Epidermolysis bullosa is one of the most important series of mechano-bullous heritable skin disorders which is categorized into four major types according to the layer that bullae forms within basement membrane zone. In dystrophic form of the disease, blisters are made in the sublamina densa zone, at the level of type VII collagen protein which produce anchoring fibrils. Type VII collagen gene is the only responsible gene for this form. The aim of this study was to survey causative mutations of type VII collagen gene among Iranian patients with epidermolysis bullosa. Materials and Methods: For this purpose, exons 73-75 were investigated by polymerase chain reaction followed by direct sequencing. Results: In current study, we found three different point mutations in type VII collagen alleles in 7 out of 50 patients. Four patients were homozygous for a new deletion which resulted in frame shift (p.Pro2089fs). Two patients were homozygous for a recurrent glycine substitution (p.G2031S) and one patient was detected with an allele carrying a substitution (p.R2069C). Conclusion: The results emphasized heterogeneity in the type VII collagen gene and will provide a sign for early diagnosis and future study of the disease pathogenesis.
کلیدواژه‌های انگلیسی مقاله

نویسندگان مقاله آرمیتا کاکاوند حمیدی | armita kakavand hamidi
department of biology, faculty of sciences, guilan university, rasht, iran

سازمان اصلی تایید شده: دانشگاه گیلان (Guilan university)

محمد مقدم | mohammad moghaddam
hematology research center, shiraz university of medical sciences, shiraz, iran

سازمان اصلی تایید شده: دانشگاه علوم پزشکی شیراز (Shiraz university of medical sciences)

نسیم hatamnejadian | nasim hatamnejadian
skin research center, shahid beheshti university of medical sciences, tehran, iran

سازمان اصلی تایید شده: دانشگاه علوم پزشکی شهید بهشتی (Shahid beheshti university of medical sciences)

احمد ابراهیمی | ahmad ebrahimi
cellular-molecular research center cmerc , research institute for endocrine sciences, shahid beheshti university of medical sciences, tehran, iran

سازمان اصلی تایید شده: دانشگاه علوم پزشکی شهید بهشتی (Shahid beheshti university of medical sciences)


نشانی اینترنتی http://ijbms.mums.ac.ir/article_7467.html
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کد مقاله (doi)
زبان مقاله منتشر شده en
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نوع مقاله منتشر شده Original Article
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