The project designs a targeted sequencing panel based on amplicon through high-throughput sequencing (NGS) and multiplex PCR technology, sequences the susceptibility genes of type 2 diabetes, and evaluates the relationship between them and the clinical characteristics of patients with type 2 diabetes. Twenty-one genetic loci suitable for the detection of susceptibility genes of type 2 diabetes in Chinese population are selected, and 1043 samples of patients with type 2 diabetes are subject to panel sequencing. The sequencing results are of relatively high uniformity, further verifying that KCNQ1, CDKAL1, CDKN2B and other genes are the risk genes for T2DM pathogenesis.

The combination of NGS technology and multiplex PCR technology is a powerful tool in the detection of clinical genes. In comparison with the traditional first-generation sequencing and chip sequencing, the study of susceptibility genes by means of multiplex PCR-NGS sequencing enjoys the advantages of high sequencing throughput, high accuracy, low research cost, and simultaneous research on a large number of samples, which is a significant support for precision medicine and can be used for genetic susceptibility testing and guiding individualized treatment.

It is of enormous significance for the prevention of type 2 diabetes to perform early genetic screening and take intervention measures in a prompt manner for the carriers of diabetes with susceptibility alien genes. The achievement of the project is also of vital significance in establishing an early risk assessment system and individualized intervention strategy for type 2 diabetes that conforms to the characteristics of Chinese, and promoting China's research in this field to enter the international frontier fields.

Intellectual Property Rights and Awards:

(1) Patent for invention

Combination of mutation sites for detecting susceptibility genes of type 2 diabetes, detection primers and application thereof, application number: 201711270823.6 (having passed the initial examination, publication number: 2018011600840330)

(2) Software copyright

Automatic detection software V1.0 of diabetes susceptibility genes based on high-throughput sequencing, registration number: 2017SR321036.

(3) Works

1) Li Chunrui, Xing Yuhua, Pei Zhiyong and Chen Yubao. NGS-based Panel Design and Preliminary Clinical Application of Targeted Sequencing of Susceptible Genes of Type 2 Diabetes. Chinese Journal of Diabetes, 2018.

2) Pei Zhiyong, Liu Manjiao, Chen Yubao. Analysis and Research Progress of Susceptibility Genes of Type 2 Diabetes in Different Populations. International Journal of Laboratory Medicine, 2017,38(24):15-21.

3) Zhang Lijie, Pei Zhiyong, Chen Yubao. Metabolic Pathways Research of Susceptibility Genes of Diabetes by Bioinformatics. International Journal of Laboratory Medicine, 2016, 37(2A:2996.

In 2017, the research organization won the Beijing Certificate for New Technologies and New Products (Services): Automatic analysis service of diabetes susceptibility genes based on high-throughput sequencing, certificate number: XFW2017DZ0121