Ntn1 Gene Susceptible SNP Site and Its Application
A locus and allele technology, applied in the field of genetic engineering and auxiliary diagnosis of birth defects
- Summary
- Abstract
- Description
- Claims
- Application Information
AI Technical Summary
Problems solved by technology
Method used
Image
Examples
Embodiment 1
[0035] According to the GWAS study of the Chinese Han population, rs4791774 was found to be located in the intron region of the NTN1 gene. In order to further screen functional sites, LD analysis was carried out on the upstream and downstream 200 kb of rs4791774 according to the Hapmap database, and it was found that rs4791331 (r 2 =0.99), rs9891446 (r 2 =0.85) is highly linked with it ( figure 1 ). Among them, rs4791331 is completely linked to rs4791774. We used RegulomeDB to predict its function, and found that rs4791774 scored 4 (no binding), rs4791331 scored 2b (may affect binding), and rs9891446 had no prediction results. Using F-SNP prediction, the score of rs4791774 was 0.192, the score of rs4791331 was 0.714, and the score of rs9891446 was 0.5. The higher the score, the more likely the site has functional significance. Based on the functional prediction results of the two softwares, rs4791331 may be the functional site of this region, and its C>T mutation can chang...
Embodiment 2
[0039]Example 2 Association between rs4791331 locus and genetic risk of non-syndromic cleft lip and palate
PUM
Abstract
Description
Claims
Application Information
- R&D Engineer
- R&D Manager
- IP Professional
- Industry Leading Data Capabilities
- Powerful AI technology
- Patent DNA Extraction
Browse by: Latest US Patents, China's latest patents, Technical Efficacy Thesaurus, Application Domain, Technology Topic, Popular Technical Reports.
© 2024 PatSnap. All rights reserved.Legal|Privacy policy|Modern Slavery Act Transparency Statement|Sitemap|About US| Contact US: help@patsnap.com