12 results about "Pseudogene" patented technology

Provided herein is a transgenic chicken comprising a genome having an endogenous immunoglobulin heavy chain gene in which the IgY CH1 coding sequence is functionally deleted. In certain embodiments, in B cells of the chicken the endogenous immunoglobulin heavy chain gene comprises: (a) a functional immunoglobulin heavy chain gene comprising, in operable linkage, a nucleic acid encoding an antibody heavy chain variable domain and a constant region coding sequence in which the IgY CH1 coding sequence is functionally deleted; and (b) a plurality of pseudogenes that are operably linked to said functional immunoglobulin heavy chain gene and that donate, by gene conversion, nucleotide sequence to the nucleic acid encoding the variable domain of (a), wherein the pseudogenes are upstream of the nucleic acid encoding an antibody heavy chain variable domain of (a).

This disclosure provides, among other things, a transgenic animal that uses gene conversion for antibody diversification, comprising B cells in which the endogenous immunoglobulin heavy chain locus comprises: (a) a functional immunoglobulin heavy chain gene comprising a nucleic acid encoding an autonomous heavy chain (AHC) variable domain; and (b) a plurality of pseudogenes that are operably linked to said functional immunoglobulin heavy chain gene and that donate, by gene conversion, nucleotide sequence to the nucleic acid encoding the AHC variable domain of (a), wherein the pseudogenes are upstream or downstream of the functional immunoglobulin heavy chain gene.

This disclosure provides, among other things, strategies for minimizing antibody diversification in a transgenic animal that uses gene conversion for antibody diversification. In some embodiments, the animal may comprise a genome comprising an endogenous immunoglobulin light chain locus comprising: (a) a functional immunoglobulin light chain gene comprising a nucleic acid encoding a light chain variable region; and (b) a plurality of pseudogenes that are operably linked to the functional immunoglobulin light chain gene and that donate, by gene conversion, nucleotide sequence to the nucleic acid encoding a light chain variable region, wherein the pseudogenes are upstream or downstream of the functional immunoglobulin light chain gene and encode the same amino acid sequence as the light chain variable region of the functional immunoglobulin light chain gene of (a). In other embodiments, the locus may have a tandem array of coding sequences for the light chain.

The current disclosure provides for methods and compositions for classifying subjects having different biological states. The disclosure describes a method comprising: filtering sequence data obtained from a sample from a subject based on long non-coding RNA (lncRNA) and / or pseudogene RNA (pgRNA), and / or the reference genome; determining a biological state classification of the subject by providing the filtered sequence data to one or more machine learning classifiers as input, wherein the one or more machine learning classifiers is trained to output biological state classifications based on filtered sequence data of a training data set.

The application provides a STRC gene copy number variation detection method based on whole genome sequencing. The STRC gene and the STRCP1 gene are subjected to sequence alignment to find each difference site of the STRC gene and the STRCP1 gene. For each difference site, the sequence of the corresponding STRC position and STRCP1 position in the genome is read from a variation detection file. The total copy number of the true gene and the false gene is calculated by taking the reference site in the genome as a reference. The STRC gene copy proportion on each difference site is calculated. The STRC gene copy number on each difference site is calculated according to the total copy number and the STRC gene copy proportion. The STRC gene copy number on each exon is determined according to the STRC gene copy number on each difference site. The method can realize the detection of the STRC copy number, simplifies the detection process, improves the detection throughput and reduces the cost.

The invention relates to the technical field of gene detection, in particular to an IKBKG gene mutation detection probe group and a kit for liquid phase hybridization capture of a Pacbio sequencing platform. The probe group comprises sequences as shown in SEQ ID NO. 1 to SEQ ID NO. 329; by designing an IKBKG gene specific probe and combining the advantages of long reading length and high accuracy of Pacbio sequencing, synchronous detection of IKBKG gene point mutation, insertion and deletion and large-fragment structure variation is realized. The invention overcomes the interference of pseudogene IKBKGp1, is suitable for clinical diagnosis of pigment disorder and other related diseases, and has important clinical transformation value.

Methods and systems for array-based methods for genotyping multiallelic markers are disclosed. Also disclosed herein are methods for whole genome amplification and locus specific multiplex PCR for selectively biasing amplification for reducing effects of undesired pseudogenes in resulting data.

The application provides a CYP21A2 gene mutation detection method, system and storage medium, comprising the following steps: identifying difference sites and homologous intervals by reference genome self alignment, and constructing a paralog characteristic site fingerprint library; constructing a Masker reference genome according to the homologous intervals on the reference genome, and obtaining a candidate variation list; using the physical link information of a double-end sequencing read pair and the characteristic site fingerprint library to determine the true or false gene source of each candidate variation; quantitatively calculating the true gene copy number based on re-alignment sequencing depth, background reference library and characteristic site allele frequency; and determining whether a recombination event occurs between the true gene and the false gene based on the physical link information of the double-end sequencing read pair across multiple characteristic sites. The application effectively distinguishes different copy states such as gene deletion, single copy, normal double copy and duplication, and assists in clinically determining gene deletion or duplication events.

The invention provides a genetically engineered bacterium for high yield of D-pantothenic acid and a construction method and application thereof, the construction method comprises the following steps: in a chassis bacterium genome, integrating panD genes from bacillus subtilis to pseudogene loci in a multi-copy manner by applying a CRISPR-Cas9 mediated gene editing technology; a pyc gene and an aspB gene derived from corynebacterium glutamicum and a ppc gene and an aspA gene derived from escherichia coli are over-expressed; the lacI gene in the genome is knocked out, and the high-yield D-pantothenic acid genetically engineered bacterium which is free of plasmid dependence, free of beta-alanine and free of inductive agent IPTG is prepared. A CRISPR / Cas9 gene editing technology is applied, ten to fifteen panD genes are overlaid and copied on the basis of an existing engineering bacterium, meanwhile, the expression level of key genes in a beta-alanine synthesis route of the engineering bacterium is further finely up-regulated, and then a lacI gene is knocked out, so that the beta-alanine is obtained. The plasmid-dependence-free high-yield D-pantothenic acid gene engineering bacterium without adding the beta-alanine is obtained.

The application relates to a gene mutation recognition method and system under coexistence of genes and pseudogenes. The gene mutation recognition method under coexistence of genes and pseudogenes in the embodiment of the application comprises the following steps: obtaining sequencing data of a sample to be detected, and obtaining specific nucleotide sites of a pseudogene in the case that a target gene exists; obtaining variation information recognized based on the sequencing data; and according to the variation information and the specific nucleotide sites, recognizing wrong alignment to identify mutation information of the target gene in the sample to be detected. The application does not need to design specific primers and perform amplification reaction, improves the efficiency of gene mutation detection, can exclude the interference of the pseudogene, and improves the stability and accuracy of the detection result.

The invention belongs to the technical field of biological medicines, and particularly relates to an application of Oct4-pg4 and Oct4-pg5 long-chain non-coding RNA (Ribonucleic Acid) interference in liver cancer treatment and a verification mechanism. The interfering Oct4-pg4 and Oct4-pg5 long-chain non-coding RNA inhibits proliferation, migration and invasion of liver cancer cells, induces apoptosis of the liver cancer cells, and regulates and controls the cycle of the liver cancer cells and expression of immune escape related genes. Through in-vivo and in-vitro experiments, the expression of Oct4-pg4 and Oct4-pg5 is specifically interfered by using an RNAi technology, and the influence of the Oct4-pg4 and Oct4-pg5 on biological behaviors such as proliferation, migration, invasion and cell cycle of liver cancer cells is observed. Meanwhile, the regulation and control effects of Oct4-pg4 and Oct4-pg5 expression changes on the original gene Oct4 and cell cycle, apoptosis and differentiation related genes are further discussed, and it is proved that interference on Oct4 pseudogenes pg4 and pg5 regulates and controls expression of a plurality of key genes, and a new thought is provided for treatment of liver cancer.

This disclosure provides, among other things, strategies for minimizing antibody diversification in a transgenic animal that uses gene conversion for antibody diversification. In some embodiments, the animal may comprise a genome comprising an endogenous immunoglobulin light chain locus comprising: (a) a functional immunoglobulin light chain gene comprising a nucleic acid encoding a light chain variable region; and (b) a plurality of pseudogenes that are operably linked to the functional immunoglobulin light chain gene and that donate, by gene conversion, nucleotide sequence to the nucleic acid encoding a light chain variable region, wherein the pseudogenes are upstream or downstream of the functional immunoglobulin light chain gene and encode the same amino acid sequence as the light chain variable region of the functional immunoglobulin light chain gene of (a). In other embodiments, the locus may have a tandem array of coding sequences for the light chain.