An ITGA2B mutant protein, an ITGA2B gene mutant, an amplification primer set, detection reagents, and applications.

CN116120421BActive Publication Date: 2026-04-03湖南家辉生物技术有限公司
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Patent Information

Authority / Receiving Office
CN · China
Patent Type
Patents(China)
Current Assignee / Owner
Filing Date
2022-08-26
Publication Date
2026-04-03

AI Technical Summary

Technical Problem

Current technologies are insufficient to effectively detect and diagnose gene mutations in Glanzmann disease, resulting in a lack of accurate genetic diagnostic methods in clinical practice, which affects the early identification and treatment of the disease.

Method used

We provide the ITGA2B mutant protein and the ITGA2B gene mutant. Through amplification primer sets and detection reagents, we can achieve specific amplification and sequencing of the ITGA2B gene, detect the p.D869Afs*49 and p.L966Pfs*68 mutations, and prepare kits for the prevention, diagnosis and treatment of Glanzmann disease.

Benefits of technology

It enables precise genetic diagnosis of Glanzmann disease, enriches the spectrum of pathogenic mutations in the disease, provides guidance for early screening and treatment, and supports targeted drug therapy.

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Abstract

This invention belongs to the field of medical diagnostic technology, specifically relating to an ITGA2B mutant protein, an ITGA2B gene mutant, amplification primers, detection reagents, and applications. The ITGA2B mutant protein described in this invention includes mutations in p.D869Afs*49 and p.L966Pfs*68. This invention is the first to discover that the ITGA2B mutant protein can cause Glanzmann disease. By detecting whether subjects carry the aforementioned mutant protein or the gene encoding the aforementioned ITGA2B mutant protein, it can be used for the genetic diagnosis of Glanzmann disease, as well as prenatal diagnosis and eugenics, providing a novel theoretical basis for the treatment of Glanzmann disease patients.
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