PRIMER SET, KIT FOR DETERMINING ONSET AND/OR ONSET RISK OF SPINAL MUSCULAR ATROPHY, AND METHOD FOR DETERMINING ONSET AND/OR ONSET RISK OF SPINAL MUSCULAR ATROPHY

Title:

PRIMER SET, KIT FOR DETERMINING ONSET AND/OR ONSET RISK OF SPINAL MUSCULAR ATROPHY, AND METHOD FOR DETERMINING ONSET AND/OR ONSET RISK OF SPINAL MUSCULAR ATROPHY

Document Type and Number:

WIPO Patent Application WO/2024/085079

Kind Code:

A1

Abstract:

[Problem] SMN2 gene located in the vicinity of SMN1 gene is different from the SMN1 gene by only 5 bases. Thus, in order to perform an SMA screening test, it was necessary to establish a test system that can detect the SMN1 gene specifically with high sensitivity. [Solution] Provided are: a primer set that amplifies nucleic acid encoding Survival motor neuron (SMN) 1 but does not amplify nucleic acid encoding Survival motor neuron (SMN) 2; a kit for determining onset and/or onset risk of spinal muscular atrophy and including the primer set; and a method for determining onset and/or onset risk of spinal muscular atrophy using the primer set.

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Inventors:

HIRANO MASAKI (JP)

Application Number:

PCT/JP2023/037160

Publication Date:

April 25, 2024

Filing Date:

October 13, 2023

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Assignee:

CRAIF INC (JP)

International Classes:

C12Q1/6883; C12N15/12; C12Q1/6827; C12Q1/686

Domestic Patent References:

WO2021059289A1	2021-04-01
WO2021020261A1	2021-02-04

Foreign References:

CN107630083A	2018-01-26
CN108396060A	2018-08-14
CN106319085A	2017-01-11
CN113913512A	2022-01-11
CN106520942A	2017-03-22
CN105441432A	2016-03-30
CN111172273A	2020-05-19
CN114736958A	2022-07-12
CN112280852A	2021-01-29

Other References:

FELDKöTTER MARKUS, SCHWARZER VERENA, WIRTH RADU, WIENKER THOMAS F., WIRTH BRUNHILDE: "Quantitative Analyses of SMN1 and SMN2 Based on Real-Time LightCycler PCR: Fast and Highly Reliable Carrier Testing and Prediction of Severity of Spinal Muscular Atrophy", THE AMERICAN JOURNAL OF HUMAN GENETICS, AMERICAN SOCIETY OF HUMAN GENETICS , CHICAGO , IL, US, vol. 70, no. 2, 1 February 2002 (2002-02-01), US , pages 358 - 368, XP055788100, ISSN: 0002-9297, DOI: 10.1086/338627

Attorney, Agent or Firm:

AKATSU Takeshi et al. (JP)

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