Obshchestvo s ogranichennoj otvetstvennostyu "Tsentr Genetiki i Reproduktivnoj Meditsiny "GENETIKO"
发明人:
Isaev Artur Aleksandrovich,Orlova Anna Aleksandrovna,Pomerantseva Ekaterina Alekseevna,Zhikrivetskaya Svetlana Olegovna,Marakhonov Andrej Vladimirovich
申请号：
RU20170129586
公开号：
RU2671156(C1)
申请日:
2017.08.21
申请国别(地区):
俄罗斯
年份:
2018
代理人:
摘要：
FIELD: biochemistry.SUBSTANCE: invention relates to biochemistry. Method for preimplantation genetic diagnosis of spinal muscular atrophy is proposed, which involves the deletion of the 7 exon of the SMN1 gene, where direct diagnostics using PCR-RFLP is carried out, along with indirect diagnostics with specific primers for inheritance analysis of molecular-genetic markers linked to a mutation. Invention can be used in genetic diagnosis.EFFECT: method showed high specificity and efficiency, and also universality with respect to bio-samples of various types.1 cl, 2 dwg, 2 ex
