Origin of dystrophin gene deletions in Duchenne and Becker muscular dystrophy patients from Ukraine
- 作者: Kravchenko S.A.1, Nechyporenko M.V.1, Livshits L.A.1
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隶属关系:
- Institute of Molecular Biology and Genetics
- 期: 卷 51, 编号 3 (2017)
- 页面: 185-191
- 栏目: Article
- URL: https://journals.rcsi.science/0095-4527/article/view/173609
- DOI: https://doi.org/10.3103/S0095452717030057
- ID: 173609
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详细
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.
作者简介
S. Kravchenko
Institute of Molecular Biology and Genetics
Email: livshits@imbg.org.ua
乌克兰, Kyiv
M. Nechyporenko
Institute of Molecular Biology and Genetics
Email: livshits@imbg.org.ua
乌克兰, Kyiv
L. Livshits
Institute of Molecular Biology and Genetics
编辑信件的主要联系方式.
Email: livshits@imbg.org.ua
乌克兰, Kyiv
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