Identification of deletions and duplications in Ecuadorian patients with duchenne muscular dystrophy / Identificaci?n de deleciones y duplicaciones en pacientes ecuatorianos
- Format
- MasterThesis
- Status
- publishedVersion
- Description
Duchenne muscular dystrophy is an X linked recessive genetic disorder caused by mutations in the dystrophin gene (DMD). According to the Public Health Ministry of Ecuador, DMD affects 20 to 30 in every 100.000 born males. During the last decade, there has been an important investment in the development of biomedical sciences in Ecuador, which leads to research and implementation of new molecular diagnostic technologies that will help to improve the Ecuadorian health system. This is the first research project that proposes multiplex ligation-dependent probe amplification or MLPA as a complementary molecular diagnostic technique for the screening of deletions and duplications in the DMD gene in Ecuadorian patients clinically diagnosed with DMD. From the 16 patients analysed with MLPA, three male patients showed a deletion cluster of exons 45 to 50 in the central region of the gene, commonly related with the disease. Interestingly, a duplication of exons 53 to 57 was found in one of the patients with no positive DMD carrier pattern in the mother, a de novo mutation reported as an inherited DNA disorder in the DMD databases. Even though no female carrier status was found, the technique allows not only to identify new deletions or duplications, but also is able to determine the maternal origin of the disease. It is conclude that MLPA is an adequate technique with accurate, rapid and high quality results that can help to determine the main deletions and duplications that cause Duchenne muscular dystrophy in the Ecuadorian population.
- Publication Year
- 2013
- Language
- eng
- Topic
- GEN?TICA MOLECULAR
BIOLOG?A MOLECULAR
DELECIONES
DUPLICACIONES
- Repository
- Repositorio SENESCYT
- Rights
- openAccess
- License
- openAccess