Early Prenatal Detection of Mutation of Dystrophin Gene in Patients With Duchenne Muscular Dystrophy

被引：0
|
作者：
Abdrakhmanova, Zh U. [1 ]
Mahambetov, K. O. [1 ]
Abildinova, G. Zh [1 ]
机构：
[1] Astana Med Univ, 49A Baybitshilik Str, Astana, Kazakhstan
来源：
RESEARCH JOURNAL OF PHARMACEUTICAL BIOLOGICAL AND CHEMICAL SCIENCES | 2015年 / 6卷 / 04期
关键词：
Duchenne muscular dystrophy; the mutation boundaries in the dystrophin gene; the spectra of the deletions in the dystrophin gene; the method of pre-clinical diagnostics for predicting mutations;
D O I：
暂无
中图分类号：
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号：
07 ; 0710 ; 09 ;
摘要：
As far as at this current stage in practical healthcare there is actual problem we have necessity to search for new ways of early detection of hereditary diseases and identification of precise mutation borders. An article is considered the multiplex ligation-dependent probe amplification (MLPA) making it possible to expand the search for mutation boundaries and predict the probability of birth of an unhealthy child which was developed according to our research. The developed method of pre-clinical diagnostics for predicting mutations in the dystrophin gene in its heterozygous state in pre- and postnatal periods is allowed to identify "hot spots" of break between exons 45-50 of DMD gene.
引用
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页码：2056 / 2061
页数：6
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