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Iranian Biomedical Journal، جلد ۲۱، شماره ۵، صفحات ۳۳۸-۳۴۱
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| عنوان فارسی |
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| چکیده فارسی مقاله |
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| کلیدواژه‌های فارسی مقاله |
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| عنوان انگلیسی |
Next-Generation Sequencing Reveals One Novel Missense Mutation in COL1A2 Gene in an Iranian Family with Osteogenesis imperfecta |
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| چکیده انگلیسی مقاله |
Background: Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous disorder characterized by bone loss and bone fragility. The aim of this study was to investigate the variants of three genes involved in the pathogenesis of OI. Methods: Molecular genetic analyses were performed for COL1A1, COL1A2, and CRTAP genes in an Iranian family with OI. The DNA samples were analyzed by next-generation sequencing (NGS) gene panel and Sanger sequencing. Results: Five different variants were identified in COL1A1 and COL1A2, including two variants in COL1A1 and three variants in COL1A2. Among the five causative COL1A1 and COL1A2 variants, one novel variants, c.1081 G>A, was found in COL1A2, which was identified in two siblings. Conclusion: Our finding extends the variant spectrum of the COL1A2 gene and has important implications for genetic counseling of families. The NGS is a powerful molecular diagnostic strategy for OI, a heterogeneous disorder. |
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| کلیدواژه‌های انگلیسی مقاله |
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| نویسندگان مقاله |
فرح طالبی | farah talebi
department of genetic, faculty of science, shahid chamran university of ahvaz, ahvaz, iran
سازمان اصلی تایید شده: دانشگاه شهید چمران (Shahid chamran university)
فریده قنبری مرداسی | farideh ghanbari mardasi
department of midwifery, shoushtar faculty of medical science, shoushtar, iran
جواد محمدی اصل | javad mohammadi asl
department of medical genetics, faculty of medicine, ahvaz jundishapur university of medical sciences, ahvaz, iran
سازمان اصلی تایید شده: دانشگاه علوم پزشکی جندی شاپور اهواز (Ahvaz jundishapur university of medical sciences)
امیرهوشنگ باورصاد | amir hooshang bavarsad
department of internal medicine, faculty of medicine, ahvaz jundishapur university of medical sciences, ahvaz, iran
سازمان اصلی تایید شده: دانشگاه علوم پزشکی جندی شاپور اهواز (Ahvaz jundishapur university of medical sciences)
معصومه صالحی کمبو | masoumeh salehi kambo
department of midwifery, shoushtar university of medical sciences, shoushtar, iran
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| نشانی اینترنتی |
http://ibj.pasteur.ac.ir/browse.php?a_code=A-10-1-655&slc_lang=en&sid=en |
| فایل مقاله |
اشکال در دسترسی به فایل - ./files/site1/rds_journals/125/article-125-419784.doc |
| کد مقاله (doi) |
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| زبان مقاله منتشر شده |
en |
| موضوعات مقاله منتشر شده |
Molecular Genetics & Genomics |
| نوع مقاله منتشر شده |
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