A primer composition, product and use thereof for assessing genetic predisposition to sudden unexplained death

By developing primer compositions and a multi-gene risk scoring model, the problem of assessing genetic susceptibility to sudden death of unknown cause was solved, enabling accurate identification of the cause of death in individuals with SUD and improving the scientific rigor of forensic identification.

CN122104888APending Publication Date: 2026-05-29FUDAN UNIVERSITY
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Patent Information

Authority / Receiving Office
CN · China
Patent Type
Applications(China)
Current Assignee / Owner
FUDAN UNIVERSITY
Filing Date
2026-02-12
Publication Date
2026-05-29

AI Technical Summary

Technical Problem

Existing technologies make it difficult to systematically assess the genetic susceptibility to sudden death of unknown cause (SUD) in individuals with undetected rare pathogenic genetic variations in coding regions, leading to difficulties in determining the cause of death in sudden death-related cases.

Method used

A primer composition comprising primer pairs for 238 QTL genotyping was developed for detecting non-coding region genetic variations using next-generation sequencing technology, constructing a multi-gene risk scoring model, calculating the Z score, and identifying individuals with high genetic risk of SUD.

Benefits of technology

It enables accurate assessment of genetic susceptibility to sudden death (SUD), provides precise means of determining the cause of death, and improves the scientific rigor of forensic examinations in cases related to sudden death.

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Abstract

The present application relates to the field of forensic pathology, forensic genetics and molecular identification technology, in particular to a primer composition for evaluating genetic susceptibility of unexplained sudden death, products and applications thereof. The primer composition provided by the present application comprises nucleotide sequences such as amplification primers shown in SEQ ID NO. 1-512, that is, 256 pairs of primers related to 238 quantitative trait loci. The present application further provides products and methods for evaluating genetic susceptibility of unexplained sudden death of individuals. Experimental results show that the primer composition or kit provided by the present application can detect consistent and highly repeatable genotyping results, and on this basis, the genetic susceptibility of unexplained sudden death can be further evaluated by calculating the polygenic risk score, which has important significance for the genetic background research of unexplained sudden death and the accurate cause of death identification in sudden death related cases in forensic identification work.
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