38 results about "Chromosome microdeletion" patented technology

The invention provides a detection method, a kit and a system for noninvasive prenatal screening of fetal chromosome copy number variation, fetal chromosome microdeletion / microduplication and / or dominant single gene mutation. The invention further provides a design method of a targeted capture probe. The detection method is used for non-invasive prenatal screening of fetuses. Compared with existing non-invasive prenatal screening detection methods, the application range of clinical gene detection can be expanded, and the detection accuracy is improved.

The invention relates to the field of gene deletion detecting, in particular to a multiplex PCR (polymerase chain reaction) primer set for detection Y chromosome microdeletion, kit and application. The multiplex PCR primer set comprises a universal primer and a specific primer, the universal primer has base sequences shown as SEQ ID NO:1 and SEQ ID NO:2, a 5' terminal of the base sequence shown as the SEQ ID NO:1 is marked with a fluorophore, and the specific primer comprises a primer having base sequences shown as SEQ ID NO:3-SEQ ID NO:22. The defect that conventional multiplex PCR is low in sensitivity and non-specific amplification is overcome; through a method combining a novel stable universal primer-multiplex PCR reaction system with a fluorescent labeling universal primer, an amplification product is subjected to capillary electrophoresis analysis, so that high sensitivity of detection is guaranteed, cost is effectively lowered, and large-sample-size efficient detection can be realized.

The present invention discloses using SPR technology to prenatally detect specific DNA loss or gain related to some genomic disorders. An efficient formula to make a mixed SAM that can greatly enhance the immobilization ability of the metal surface in SPR based techniques, which is good for the immobilization of DNA markers used for the identification of chromosome numerical abnormalities (such as chromosomes 13, 18, 21, X and Y related anomalies) and chromosome microdeletion syndromes (such as DiGeorge syndrome, etc) is also disclosed.

The invention relates to the field of chromosome deletion, in particular to a kit for detecting the microdeletion of a human Y chromosome. The kit comprises PCR (Polymerase Chain Reaction) reaction liquid I, PCR reaction liquid II and PCR reaction liquid III, wherein the PCR reaction liquid I comprises primers and fluorescent probes of specific amplification ZFX / Y, sY254, sY134 and SRY (Sex-determine Region of Y Chromosome) sites; the PCR reaction liquid II comprises primers and fluorescent probes of specific amplification ZFX / Y, sY84 and sY127 sites; the PCR reaction liquid III comprises primers and fluorescent probes of specific amplification ZFX / Y, sY255 and sY86 sites. According to the kit disclosed by the invention, by designing the specific fluorescent probes of different STS (Sequence Tagged Site) and three-pipe reaction systems are optimally combined, so that microdeletion types of the Y chromosome can be detected by one-time test; effective monitoring for different reaction systems is realized by the ZFX / Y.

The present invention provides a detection method, a kit, and a system thereof for non-invasive prenatal screening of fetal chromosome copy number variation, fetal chromosome microdeletion / microduplication, and / or dominant single gene mutation. And the present invention also provides a method for designing a targeted capture probe, which is used for non-invasive prenatal screening of fetuses. Compared with the existing non-invasive prenatal screening method, it can expand the scope of application of clinical genetic testing and improve the accuracy of testing.

The invention discloses a gene detection method for Y chromosome microdeletion. After the genomic DNA of human peripheral blood is extracted, multiplex PCR primers are designed. The multiplex PCR reaction system includes N pairs of chimeric primer pairs that specifically amplify the STSs site in the AZF segment of Y chromosome and 1 pair of universal primer pairs. With the participation of N+1 pairs of primers, the multiplex PCR reaction amplifies the target DNA template through denaturation, annealing, and extension cycles in the same reaction system; take 10ul of PCR products, stain with EB, and undergo 3% agarose electrophoresis. The electrophoresis voltage was 4V / cm, and the electrophoresis time was 20 minutes; then the electrophoresis pattern was observed under the ultraviolet transilluminator to make a judgment on the result. Therefore, a detection method with simplified PCR reaction conditions, high amplification efficiency and easy clinical experiment operation is established.

The invention belongs to the technical field of biological detection, and discloses an azoospermia chromosome variation detection kit. According to the invention, on the basis of retrospective analysis of detection results of chromosome karyotype and Y chromosome microdeletion of patients suffering from azoospermia and establishment of an azoospermia genetic database in China, a multiplex fluorescent quantitative PCR method is adopted to establish a primer probe and a kit for realizing azoospermia chromosome variation detection at one time, the clinical male infertility reason detection efficiency is improved, the cost is reduced, and the period is shortened; meanwhile, the research specially aims at Chinese populations, the clinical actual requirements of China are better met, and the positive detection rate is increased. The cause of male infertility is determined from the molecular level, so that unnecessary treatment is avoided, and the problem that the clinical mutation deletion rate of male offspring is increased due to the application of ICSC is reduced. In addition, the most advanced drying technology is adopted, the detection sensitivity can be improved, the clinical detection process is simplified, and actual use and popularization are more convenient.

The invention relates to amplification composite for detecting the microdeletion of Y-chromosome and a detection kit, belonging to the field of biotechnical detection. The amplification composite for detecting the microdeletion of Y-chromosome can be amplified to as many as 30 sites related to the microdeletion detection of the Y-chromosome through one reaction. The detection kit detects the microdeletion of the Y-chromosome through the quantitative fluorescent PCR (Polymerase Chain Reaction) method by using the amplification composite. The microdeletion abnormality of the Y-chromosome is determined according to the existence of an amplification product and the quantity of the amplification product. A large quantity of sites enables the detection result to be more convincible and can provide much more and more detailed information for determining the deletion type, and the quantitative detection of partial deletion and repetition can be realized. The detection kit is easier and more convenient to operate, only one PCR amplification and one sequencer detection reaction are needed to complete the detection of one sample, the whole process needs 4-5 h, and the operation intensity and the detection time are greatly reduced.

The invention belongs to the technical field of in vitro nucleic acid detection, and specifically relates to a detection method of a human Y chromosome tag site sY1291 and an application thereof. The present invention provides a new sY1291 site detection strategy, that is, redesign specific PCR amplification primers in the 38bp large fragment repeat region upstream of the sY1291 site detection region recommended by EAA / EMQN, and the new PCR amplification primers detect region I The 5' end of the site is 38 bp away from the 3' end of the sY1291 site detection region recommended by EAA / EMQN, and the new PCR amplification primers can simultaneously detect four regions I, II, III, and IV. The detection strategy of the present invention combines agarose electrophoresis, fluorescent label primer capillary electrophoresis or fluorescent probe method to form different detection methods of sY1291 site. The method for detecting the tag site sY1291 of the human Y chromosome provided by the present invention has strong specificity and a wide detection area of ​​the Y chromosome, and is more suitable for the expanded detection of the AZF microdeletion of the human Y chromosome.

The invention discloses a novel chromosome microdeletion / microduplication syndrome detection system which mainly comprises 643 pairs of probes, multiplex PCR (polymerase chain reaction) amplification primers and correlation detection reaction reagents. The detection process comprises the following steps: hybridizing a probe set with target nucleic acid in the sample; connecting the hybridized probe; amplifying the connecting probe; and detecting the amplification product to determine the existence or quantity of the target nucleic acid in the sample. The platform can implement systematic screening and detection on 24 chromosome aneuploids, 24 chromosome telomere abnormities, more than 70 chromosome microdeletion / microduplication syndromes and multiple monogenic disease mutation hot spots at one time by using the optimized probe set and reaction system. Compared with the existing like detection techniques (such as MLPA and the like), the detection system covers nearly all definite pathogenic regions with abnormal number of copies in the DECIPHER database, has the advantages of wide detection range, high detection precision and low cost, and is simple to operate.

The invention discloses a method for detecting microdeletion of 0.6Mb within the area of 29.5-30.1 Mb in a chromosome 16p11.2.According to the detection principle of the method, a small probability event of a genotype homozygous specific product of multiple SNP sites is utilized for judging whether chromosome microdeletion exists or not.The invention also discloses a product for detecting microdeletion of 0.6Mb within the area of 29.5-30.1 Mb in the chromosome 16p11.2.Meanwhile, the product can detect whether an object suffers from congenital scoliosis or not.The detection method and product have a wide clinical application prospect.

The invention relates to a primer combination and kit for chromosome microdeletion. By the use of a multiple PCR combined with agarose gel electrophoresis technology, seven STS loci closely associated with the Y chromosome microdeletion are detected to judge the microdeletion conditioof a Y chromosome. Seven STS loci with high specificity and sensitivity (sY84, sY86, sY127, sY134, sY254, sY255 and sY160) are chosen as detection loci, at the same time two loci ZFX / Y and SRY are utilized as quality control loci, a primer is designed aiming at each locus respectively, and products of the nine loci after multiplex amplification are directly put on the agarose gel to be conducted electrophoresis detection. By the use of the primer combination and detection system, the Y chromosome microdeletion can be detected only needing single tube amplification reaction.

The invention belongs to the technical field of biological detection, and discloses a composition of primers and probes for detecting Y chromosome microdeletion, a non-diagnostic detection method and a kit. The sY1324, sY127, sY1192, sY85, sY1233, sY254 loci and the SRY gene in the three regions of AZFa, AZFb and AZFc are selected for simultaneous detection, which can identify different deletion types of the Y chromosome, adding the AZFc region b2 / b3, b1 / b3 and b2 / b4 deletion detection rates. The kit only uses nucleic acid amplification reaction A and nucleic acid amplification reaction B, and the combination of the two reactions can realize the detection, breaking through the limitations of the traditional 6-site detection method, improving the positive detection rate and accuracy, and the low cost of reagents, which promotes Domestic independent research and development products have reached the international leading level. Detection by fluorescent quantitative PCR method has high detection efficiency and sensitivity, is convenient, has low requirements for detection equipment and operators, and is convenient for large-scale promotion. Quality control can be carried out for sample extraction, PCR amplification and manual operation throughout the detection process.

The invention relates to a method for detecting chromosome microdeletion and micro-duplication of a human embryo. The method comprises the following steps of performing whole genome amplification on cells cultured in vitro, interrupting DNA (deoxyribonucleic acid) molecules, and sequencing DNA fragments to obtain sequencing reads; comparing the sequencing reads with a reference sequence, and positioning the sequencing reads on the reference sequence; screening non-repeated areas of the reference sequence, and reserving the non-repeated areas; establishing a matrix of read number in windows through normal samples, analyzing the data of the normal samples, performing statistics on the read number of all the windows in the non-repeated areas, and establishing a probability matrix of the read number and chromosome enpeoids; calculating the copy number, i.e., the A / B / C state, of loci; selecting m continuous loci, i.e., the A state, as micro-duplication loci, and selecting m continuous loci, i.e., the C state, as microdeletion loci; contrasting the micro-duplication loci and the microdeletion loci with the existing CNV (copy number variation) and disease database, performing basic gene annotation and gene function analysis which relates to deletion parts, and annotating with a microdeletion syndrome disease type.

The invention relates to the field of gene deletion detecting, in particular to a multiplex PCR (polymerase chain reaction) primer set for detection Y chromosome microdeletion, kit and application. The multiplex PCR primer set comprises a universal primer and a specific primer, the universal primer has base sequences shown as SEQ ID NO:1 and SEQ ID NO:2, a 5' terminal of the base sequence shown as the SEQ ID NO:1 is marked with a fluorophore, and the specific primer comprises a primer having base sequences shown as SEQ ID NO:3-SEQ ID NO:22. The defect that conventional multiplex PCR is low in sensitivity and non-specific amplification is overcome; through a method combining a novel stable universal primer-multiplex PCR reaction system with a fluorescent labeling universal primer, an amplification product is subjected to capillary electrophoresis analysis, so that high sensitivity of detection is guaranteed, cost is effectively lowered, and large-sample-size efficient detection can be realized.