4 results about "New mutation" patented technology

Provided are a method and apparatus for recommending a protein mutation, and a computer device and a storage medium. The method comprises: receiving a mutation task request, wherein the request carries a specified first mutation instruction; in response to the request, generating third mutation instructions on the basis of the first mutation instruction and second mutation instructions; mutating an original protein sequence, so as to obtain mutated protein sequences corresponding to the third mutation instructions on a one-to-one basis; then, displaying scoring results and the third mutation instructions in a manner of corresponding to each other on a one-to-one basis; and determining whether a new mutation task request has been received, and if so, returning to continue to receive the new mutation task request. It can be seen that after the scoring results and the third mutation instructions are displayed in a manner of corresponding to each other on a one-to-one basis and a user performs experimental verification, a first mutation instruction is specified in a mutation task request again, thus forming a cyclic operation until the user finds an optimal protein sequence. Therefore, the user does not need to manually input a protein sequence, and thus the operation is convenient, and the efficiency of mutated-protein screening can be improved.

The application belongs to the technical field of gene detection, and particularly relates to a construction method and kit of a gene library for detecting new mutations of dominant monogenic diseases before embryo implantation. The application provides a construction method of a gene library for detecting new mutations of dominant monogenic diseases before embryo implantation, which comprises the step of amplifying the gene of the new mutation of dominant monogenic diseases before embryo implantation and related copy number variation fragments in the genomic DNA of specific screening. The application precisely applies NGS sequencing technology to the screening of dominant monogenic diseases in trace cell samples, breaks through the technical bottleneck of high-throughput sequencing under extremely low initial DNA amount in the past, and realizes the screening of new mutations before embryo implantation, thereby providing a brand-new key technical path for blocking genetic birth defects at an earlier stage.

This invention discloses a BTD gene knockdown hepatocyte injury model and its construction method, relating to the fields of molecular biology and cell biology. The model is used to knock down the expression of the BTD gene in human hepatocytes to construct a hepatocyte injury model. Its sense strand nucleotide sequence is 5'-GCGAUUGGUCUCAAGCUAA(dT)(dT)-3', and its antisense strand nucleotide sequence is 5'-UUAGCUUGAGACCAAUCGC(dT)(dT)-3'. This invention designs specific siRNA sequences to directionally knock out the BTD gene in human hepatocytes, thereby observing and verifying whether it leads to abnormalities in liver injury indicators. It clarifies the direct causal relationship between BTD gene functional defects and hepatocyte injury, providing powerful experimental tools and data support for the gene diagnosis of unexplained liver diseases, the pathogenicity assessment of new BTD gene mutation sites, and the development of related drugs.

The application provides a method and device for recommending protein mutations, a computer device and a storage medium, comprising: receiving a mutation task request, the request carrying a specified first mutation instruction; in response to the request, generating a third mutation instruction based on the first mutation instruction and a second mutation instruction; mutating an original protein sequence to obtain a mutated protein sequence corresponding to each third mutation instruction; then displaying the score results and the third mutation instruction one by one; determining whether a new mutation task request is received; if yes, continue to receive the new mutation task request; it can be seen that the score results and the third mutation instruction are displayed one by one, and the first mutation instruction is specified in the mutation task request after the user performs experimental verification, thus forming a cyclic operation until the user finds the optimal protein sequence, so that the user does not need to manually input the protein sequence, the operation is convenient, and the screening efficiency of the mutated protein can be improved.