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 relates to a high-sensitivity kit for quantitatively detecting EGFR (Epidermal Growth Factor Receptor) gene mutation and application thereof. The application comprises the following steps: respectively designing a forward primer and a backward primer in a sequence with the length of 50-100bp in a specific amplification gene mutation site area aiming at a to-be-detected gene template, designing the mutation sites at corresponding positions of the forward primer, and designing competitive Block oligonucleotides for inhibiting non-mutant amplification nearby the mutation sites. The detection is performed by utilizing the specificity aiming at a probe of the amplification product, and the gene mutation conditions are obtained by detecting the detectable markers on the probe. The invention provides a gene mutation analysis method which is stable in result, high in sensitivity and high in repeatability.

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.

An aspect of the present invention includes performing electrophoresis of a nucleic acid sample to be analyzed labeled for each base type, generating waveform data of detected intensity by detecting a label signal for the each base type, selecting another peak position for each peak position of the waveform data for each base type, calculating relative signal intensity of signal intensity in each position relative to the signal intensity in the other selected position, and analyzing existence of each base type in a base sequence coordinate position of the nucleic acid sample by comparing the relative signal intensity of the nucleic acid sample to be analyzed and the relative signal intensity of a known nucleic acid sample in each peak position. Accordingly, acquiring information about a gene mutation in trace amounts existing in a target gene region highly sensitively with high precision is realized.

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 gene mutation analysis and judgment method based on a real-time fluorescent quantitative PCR platform, which uses the fluorescent quantitative PCR amplification result of the target gene to analyze and judge, and the steps of the analysis and judgment method are as follows: the first step, after the PCR experiment ends Afterwards, calculate the CT value of the experimental results and judge the CT value to determine whether to continue to analyze the experimental situation; the second step is to run the internal control, and determine whether the DNA sample is qualified according to the internal control results; the third step is to run the positive quality control product, according to The CT value of the positive quality control product determines whether the experimental system is qualified; the fourth step, if the CT value is qualified by the above-mentioned steps, run the Tm calling program, and judge whether there is a mutation in the sample through melting curve analysis and CT value analysis. The invention has a clear and objective interpretation of the PCR results, completes the interpretation of the gene type of the sample according to the amplification data and the melting curve, and has a low misjudgment rate.

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.