38 results about "Chromosome microdeletion" patented technology

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 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 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.