Recently, the international biomedical professional journal MedComm (IF: 9.9) published online the latest research results in the field of genetic disease detection by the research groups of Professors Wu Lingqian and Liang Desheng from Central South University and Hunan Jiahui Genetic Hospital: The research team developed an innovative nucleic acid testing platform and applied for 2 national invention patents. It is a powerful new technology that integrates PAM-free, multiplex and quantitative nucleic acid detection. Its advantage is that it uses universal PAM and crRNA, utilizes the activity of Cas12a, and adopts barcoding technology to achieve accurate, efficient, multiplex and Quantitative nucleic acid testing.
Fast, accurate, economical, and sensitive nucleic acid testing plays an important role in the early rapid diagnosis of infectious diseases, the screening and diagnosis of genetic diseases, and the detection of food-borne pathogens. In this study, the research team developed a barcode-based Cas12a-mediated DNA detection (BCDetection) technology, which can overcome the traditional CRISPR-based nucleic acid detection technology that relies on specific crRNA and is limited by PAM and cannot identify any target. Sequence can only perform single-channel detection and is difficult to perform quantitative detection.
Universal Cas12a-based detection can be accomplished by hybridizing to probes specific to target sequences without the need for intrinsic PAM. In addition, hybridization of multiple pairs of probes allows detection of multiple mutations in β-thalassemia in a single reaction.
Quantitative detection of copy number of target genes or pathogens plays a vital role in medical science, including assessing the risk of having children with genetic diseases, predicting health risks, and classifying disease severity. In this study, BCDetection has quantitative detection capabilities that effectively detect copy number variations (CNVs) in the human genome, such as the differences between SMA carriers and normal individuals.
Given the versatility, programmability, and flexibility of the CRISPR/Cas12a platform, BCDetection can be further optimized to achieve rapid, multiplexed visual detection of different targets, which is expected to have a significant impact on genetic analysis and personalized disease diagnosis. The research was supported by the National Natural Science Foundation, China Postdoctoral Science Foundation, Hunan Science and Technology Innovation Program and Hunan Natural Science Foundation.
The team of Professors Wu Lingqian and Liang Desheng has always been at the forefront of the international research and development and clinical application research of new technologies for genetic disease diagnosis and prenatal diagnosis. In recent years, it has developed and promoted a series of third-generation sequencing targets targeting complex single-gene diseases that are national priorities for prevention and control. New genetic testing technologies, including: third-generation thalassemia (CATSA), third-generation congenital adrenocortical hyperplasia (CACAH), third-generation fragile X syndrome (CAFXS), etc., continue to improve my country's new technology system for the precise prevention and control of birth defects. (Zheng Yawen, Zhou Miaojin)