Origin of Dystrophin Gene Deletions in Duchenne and Becker Muscular Dystrophy Patients from Ukraine

被引：1
|
作者：
Kravchenko, S. A. [1 ,2 ]
Nechyporenko, M. V. [1 ,2 ]
Livshits, L. A. [1 ,2 ]
机构：
[1] Natl Acad Sci Ukraine, Inst Mol Biol & Genet, Kiev, Ukraine
[2] Natl Acad Sci Ukraine, Inst Mol Biol & Genet, Kiev, Ukraine
来源：
CYTOLOGY AND GENETICS | 2017年 / 51卷 / 03期
关键词：
Duchenne muscular dystrophy; de novo mutations; MLPA; DIAGNOSIS; FAMILIES; DNA;
D O I：
10.3103/S0095452717030057
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
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.
引用
收藏
页码：185 / 191
页数：7
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