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2 769 300

(13)

(51)

IPC

G01N33/50(2006-01-01)

C12Q1/6876(2018-01-01)

C12Q1/6883(2018-01-01)

(21) (22)

Application

2021108377, 2021-03-29

(24)

Start date

2021-03-29

(22)

Actual filing date

2021-03-29

(45)

Published

2022-03-30

(72)

Inventor

Isaev Artur AleksandrovichPomerantseva Ekaterina AlekseevnaZhikrivetskaya Svetlana OlegovnaMusatova Elizaveta ValerevnaSofronova Yana VladislavovnaKushnir Arina Leonidovna

(73)

Holder

Aktsionernoe Obshchestvo Genetiki I Reproduktivnoj Meditsiny

TEST SYSTEM FOR PRE-IMPLANTATION GENETIC TESTING OF TYPE 1 SPINOCEREBELLAR ATAXIA Russian patent published in 2022 - IPC G01N33/50 C12Q1/6876 C12Q1/6883

Abstract RU 2769300 C1

FIELD: medicine.

SUBSTANCE: proposed is a test system for diagnosing the pathogenic variant NC_000006.11:g. 16327867-16327953 in the ATXN1 gene associated with type 1 spinocerebellar ataxia. The test system includes a PCR mixture for the first amplification round and a PCR mixture for the second amplification round.

EFFECT: invention ensures the creation of a test system for diagnosing a pathogenic variant in the ATXN1 gene with a dual detection system, direct and indirect.

1 cl, 1 ex

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RU 2 769 300 C1

Authors

Isaev Artur Aleksandrovich

Pomerantseva Ekaterina Alekseevna

Zhikrivetskaya Svetlana Olegovna

Musatova Elizaveta Valerevna

Sofronova Yana Vladislavovna

Kushnir Arina Leonidovna

Dates

2022-03-30—Published

2021-03-29—Filed