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Origin of dystrophin gene deletions in Duchenne and Becker muscular dystrophy patients from Ukraine
- Source :
- Cytology and Genetics. 51:185-191
- Publication Year :
- 2017
- Publisher :
- Allerton Press, 2017.
-
Abstract
- The results of the analysis of exon deletions and duplications in the dystrophin gene sequences from 121 Duchenne and Becker muscular dystrophy patients from Ukraine are presented. It is shown that the level of de novo deletions in these families reaches 53%, and most of the deletions are localized in the distal part of the gene. It is important to take into account these data in genetic counseling to assess the risk of birth of patients with DMD/BMD, including in prenatal diagnostics, in families with Duchenne and Becker muscular dystrophy patients.
- Subjects :
- musculoskeletal diseases
0106 biological sciences
0301 basic medicine
Genetics
congenital, hereditary, and neonatal diseases and abnormalities
business.industry
Genetic counseling
Cell Biology
medicine.disease
01 natural sciences
Agricultural and Biological Sciences (miscellaneous)
Dystrophin gene
Human genetics
03 medical and health sciences
Exon
030104 developmental biology
medicine
Muscular dystrophy
business
Gene
010606 plant biology & botany
Subjects
Details
- ISSN :
- 19349440 and 00954527
- Volume :
- 51
- Database :
- OpenAIRE
- Journal :
- Cytology and Genetics
- Accession number :
- edsair.doi...........01513577fc7fba653846c06236c34db9
- Full Text :
- https://doi.org/10.3103/s0095452717030057