Registration Number
0215U008104,
0112U006943
, R & D reports
Title
Allelic polymorphism of genes involved in monogenic and complex disorders development
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Head
Livshits Ludmila Avramovna,
Registration Date
09-12-2015
Organization
Institute of Molecular Biology and Genetics
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It was shown that increase of SMN2 gene copy number and quantity of SMN2 functional protein lead to mitigation of disease and prolongation of life for SMA patients. It is important for improvement of clinical prognose of disease and therapy efficacy. It was shown that frequency of de novo mutation in dystrophine gene at the families with DMD patients is 57,2%. Most of the mutations are located in the distal part of gene. Obtained data allow to improve heterozygous carrier detection, prenatal diagnosis and offspring forecast in DMD high risk families.
Product Description
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Грищенко Н.В.
Гулковський Р.В.
Гуньковська Н.В.
Кравченко С.А.
Кучеренко А.М.
Лівшиць Г.Б.
Нечипоренко М.В
Пампуха В.М.
Фесай О.А.
Чернушин С.Ю.
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2020-04-02
