37 results about "Gene mutation analysis" patented technology

The present invention relates to a new skin gene card for genetic test, a method for acquiring DNA and RNA and performing various genetic tests using the same, and practical applications thereof. More specifically, the inventors of the present invention have developed a skin gene card capable of acquiring samples from human skin, hair or mucosa simply, safely and quickly and enabling stable long-term storage and transport of DNA and RNA included in the acquired sample at room temperature. Various genetic tests may performed using the acquired DNA and RNA, including polymerase chain reaction (PCR), reverse transcription (RT)-PCR, real-time PCR, sequencing, hybridization, DNA chip analysis, single-nucleotide polymorphism (SNP) assay, gene mutation assay, promoter methylation assay, gene expression assay, etc. The genetic skin test result may be utilized for disease prognosis, nutrigenomic test, pharmacogenomic test, forensic test such as personal identification, diagnosis of genetic diseases, diagnosis of skin diseases, or the like. In addition, through an objective evaluation of the skin or hair condition, a personalized cosmetic and skin care system may be established for practical application in beauty care, cosmetology, dermatology, and clinical practice.

The invention discloses a primer for detecting BRAF gene V600E mutation sites, and a PCR method of the kit. The primer comprises a wild type specific forward primer, a mutant type specific forward primer, and a reverse primer shared by the wild type specific forward primer and the mutant type specific forward primer, wherein the wild type specific forward primer has a sequence shown as SEQ No.17; the mutant type specific forward primer has a sequence shown as SEQ No.14; and the shared reverse primer has a sequence shown as SEQ No.16. The kit has the advantages of simple detection, rapidness, accuracy, low price and the like and provides a powerful tool for scientific research and clinical detection of BRAF gene V600E mutation sites and gene mutation analysis.

According to an embodiment of the present invention, a qRT-PCR primer capable of detecting blood-borne circulating cancer cell-based EML4-ALK gene mutations at a higher sensitivity detection limit than existing methods is provided. According to another embodiment of the present invention, EML4-ALK gene mutations can be detected using blood-borne circulating lung cancer tumor cells even in the caseof lung cancer patients for whom ALK-FISH testing has been impossible due to the difficulty of solid biopsy collection of lung cancer tissue, and thus a lung cancer patient screening method for determining whether an anticancer drug targeted to EML4-ALK gene mutations can be applied to a lung cancer patient is provided.

The invention relates to a circulating tumor DNA detection system for screening the existence of postoperative minimal residual lesions in colorectal cancer patients and predicting the risk of recurrence. The detection system includes a colorectal cancer tissue gene mutation screening module, a plasma cell-free DNA gene mutation analysis module, and a circulating tumor DNA status judgment module. The system uses the same next-generation sequencing gene panel to detect primary tumor tissue and plasma cell-free DNA, and considers all mutations detected in the patient's primary tumor tissue, rather than being limited to individual gene mutations, which is more comprehensive. This system can be applied to the dynamic and real-time monitoring of circulating tumor DNA, and can be used to assess the residual status of minimal residual lesions after radical resection of colorectal cancer, predict the risk of recurrence, and guide postoperative treatment decisions.

The invention relates to the field of gene engineering and cytology, in particular to an AAV receptor knocking out method, an HEK293 cell strain with an AAV receptor being knocked out and an application. The knocked-out AAV receptor is KIAA0319L. The knocking out method comprises the following steps: establishing a sgRNA carrier of a targeted AAVR genome sequence; carrying out transfection for a 293 T-cell, and culturing to obtain each clonal cell; carrying out Suveyor gene mutation analysis test; selecting AAVR mutant monoclone; then selecting an AAVR mutant cell strain with high yield of AAV; identifying a mutation condition of other potential mutant site; and enlarging the cell strain without other mutant sites, and establishing a library for production. The final yield of the AAV produced by the HEK293 cell strain of the knocked-out AAV receptor is about 50 percent higher than the yield of the conventional HEK293.

The invention discloses primers for detecting ApoE gene polymorphism, a kit and a PCR (polymerase chain reaction) method for the primers or the kit. The primers include two sets of primers for detecting an rs429358 site and an rs7412 site respectively; the first set of primers include a mutant-type specific upstream primer of the rs429358 site, a wild-type specific upstream primer of the rs429358 site and a first downstream primer shared by the mutant-type specific upstream primer and the wild-type specific upstream primer of the rs429358 site; the second set of primers include a mutant-type specific upstream primer of the rs7412 site, a wild-type specific upstream primer of the rs7412 site and a second downstream primer shared by the mutant-type specific upstream primer and the wild-type specific upstream primer of the rs7412 site. The kit has the advantages of simplicity, quickness, accuracy and low price for detection and the like, and provides a powerful tool for scientific research and clinical analysis of ApoE gene typing and gene mutation.

The invention discloses a kit for detecting drug sensitivity of rectal cancer cells based on gene variation analysis, which consists of the following materials: (1) drug reagents for rectal cancer cells; Modified magnetic nanoparticle indicator solution A; (3) magnetic nanoparticle indicator solution B containing red fluorescent protein-labeled anti-variant P53 protein antibody for surface modification; (4) substrate medium and dilution buffer. In the present invention, the expression of wild-type P53 gene protein and mutant P53 gene protein is simultaneously calculated to measure the patient's sensitivity to drugs, the individualization is more prominent and the detection results are more accurate, and more sensitive drugs are screened out for the treatment of the disease. Choose the best chemotherapy regimen.