A novel deletion and two recurrent substitutions on type VII collagen gene in seven Iranian patients with epidermolysis bullosa
Publish place: Iranian Journal of Basic Medical Sciences، Vol: 19، Issue: 8
Publish Year: 1395
نوع سند: مقاله ژورنالی
زبان: English
View: 240
This Paper With 5 Page And PDF Format Ready To Download
- Certificate
- من نویسنده این مقاله هستم
استخراج به نرم افزارهای پژوهشی:
شناسه ملی سند علمی:
JR_IJBMS-19-8_007
تاریخ نمایه سازی: 30 مهر 1400
Abstract:
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 ۷۳-۷۵ 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 ۷ out of ۵۰ patients. Four patients were homozygous for a new deletion which resulted in frame shift (p.Pro۲۰۸۹fs). Two patients were homozygous for a recurrent glycine substitution (p.G۲۰۳۱S) and one patient was detected with an allele carrying a substitution (p.R۲۰۶۹C). 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.
Keywords:
Authors
Armita Kakavand Hamidi
Department of Biology, Faculty of Sciences, Guilan University, Rasht, Iran
Mohammad Moghaddam
Hematology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran
Nasim Hatamnejadian
Skin Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran
Ahmad Ebrahimi
Cellular-Molecular Research Center (CMERC), Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran
مراجع و منابع این Paper:
لیست زیر مراجع و منابع استفاده شده در این Paper را نمایش می دهد. این مراجع به صورت کاملا ماشینی و بر اساس هوش مصنوعی استخراج شده اند و لذا ممکن است دارای اشکالاتی باشند که به مرور زمان دقت استخراج این محتوا افزایش می یابد. مراجعی که مقالات مربوط به آنها در سیویلیکا نمایه شده و پیدا شده اند، به خود Paper لینک شده اند :