دورية أكاديمية
A prevalent mutation with founder effect in Spanish Recessive Dystrophic Epidermolysis Bullosa families
| العنوان: | A prevalent mutation with founder effect in Spanish Recessive Dystrophic Epidermolysis Bullosa families |
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| المؤلفون: | Escámez María-José, García Marta, Sánchez-Jimeno Carolina, Cuadrado-Corrales Natividad, Illera Nuria, Hernández-Martín Ángela, Trujillo-Tiebas María-José, Ayuso Carmen, Del Rio Marcela |
| المصدر: | BMC Medical Genetics, Vol 11, Iss 1, p 139 (2010) |
| بيانات النشر: | BMC |
| سنة النشر: | 2010 |
| المجموعة: | Directory of Open Access Journals: DOAJ Articles |
| مصطلحات موضوعية: | Internal medicine, RC31-1245, Genetics, QH426-470 |
| الوصف: | Background Recessive Dystrophic Epidermolysis Bullosa (RDEB) is a genodermatosis caused by more than 500 different mutations in the COL7A1 gene and characterized by blistering of the skin following a minimal friction or mechanical trauma. The identification of a cluster of RDEB pedigrees carrying the c.6527insC mutation in a specific area raises the question of the origin of this mutation from a common ancestor or as a result of a hotspot mutation. The aim of this study was to investigate the origin of the c.6527insC mutation. Methods Haplotypes were constructed by genotyping nine single nucleotides polymorphisms (SNPs) throughout the COL7A1 gene. Haplotypes were determined in RDEB patients and control samples, both of Spanish origin. Results Sixteen different haplotypes were identified in our study. A single haplotype cosegregated with the c.6527insC mutation. Conclusion Haplotype analysis showed that all alleles carrying the c.6527insC mutation shared the same haplotype cosegregating with this mutation ( CCGCTCAAA_6527insC ), thus suggesting the presence of a common ancestor. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| تدمد: | 1471-2350 |
| العلاقة: | http://www.biomedcentral.com/1471-2350/11/139Test; https://doaj.org/toc/1471-2350Test; https://doaj.org/article/357d511f5d484fbfb3e9f2a746919688Test |
| DOI: | 10.1186/1471-2350-11-139 |
| الإتاحة: | https://doi.org/10.1186/1471-2350-11-139Test https://doaj.org/article/357d511f5d484fbfb3e9f2a746919688Test |
| رقم الانضمام: | edsbas.2B11155C |
| قاعدة البيانات: | BASE |
Full Text Finder | تدمد: | 14712350 |
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| DOI: | 10.1186/1471-2350-11-139 |