US 2026/0218304 A1Published application

Methods and kits for diagnosing neuronal intranuclear inclusion disease

AssigneeXiamen Biofast Biotechnology Co., Ltd.

InventorsYi-Yi KUO, Yu-Chiao HSIAO, Po-Tse LIN, I-Fan CHIU

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Abstract

Disclosed herein are kits for determining the GGC repeat number of a GGC repeat region in the 5′ untranslated region (5′ UTR) of NOTCH2NLC gene in a nucleic acid sample of a subject. The kit includes first to fourth primers respectively having polynucleotide sequences of SEQ ID NOs: 1 to 4; or first to fourth primers respectively having polynucleotide sequences of SEQ ID NOs: 5, 6, 3 and 4. Also disclosed herein are methods for determining the GGC repeat number of a GGC repeat region in the 5′ UTR of NOTCH2NLC gene in a nucleic acid sample of a subject by use of the present kit, and method for making a diagnosis as to whether the subject has neuronal intranuclear inclusion disease (NIID) based on the determined GGC repeat number of NOTCH2NLC gene.

Claims14

Dependent claims

A kit for determining the GGC repeat number of a GGC repeat region in the 5′ untranslated region (5′ UTR) of Notch 2 N-terminal like C (NOTCH2NLC) gene comprising:

a first primer complementary to an upstream sequence of the GGC repeat region in the 5′ UTR of the NOTCH2NLC gene, wherein the first primer comprises a first polynucleotide sequence of SEQ ID NOs:
1 or 5;
a second primer complementary to a downstream sequence of the GGC repeat in the 5′ UTR of the NOTCH2NLC gene, wherein the second primer comprises a second polynucleotide sequence of SEQ ID NOs:
2 or 6;
a third primer complementary to the GGC repeat region in the 5′ UTR of the NOTCH2NLC gene, wherein the third primer comprises a third polynucleotide sequence of SEQ ID NO:
3;
and
a fourth primer comprising a fourth polynucleotide sequence of SEQ ID NO:
4.

6 more elements

Dependencies are inferred from the claim text.

Facts

Application: 19/457,249Filed 23 Jan 2026
Priority: CN 202510116687.324 Jan 2025
Published: 30 Jul 2026
Term ends: Not estimatedThe source records don’t support an estimate.

Classification8 codes

C12Q 1/6883
Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes: for diseases caused by alterations of genetic material
C12Q 1/6806
Involving nucleic acids: preparing nucleic acids for analysis, e.g. for polymerase chain reaction [PCR] assay
C12Q 1/686
Nucleic acid amplification reactions: polymerase chain reaction [PCR]
G01N 27/44726
By optical means: using specific dyes, markers or binding molecules