66 results about "Chromosome abnormality" patented technology

The present invention relates to improved methods of prenatal diagnosis, screening, monitoring and/or testing. The inventive methods include the analysis by array-based hybridization of cell-free fetal DNA isolated from amniotic fluid. In addition to allowing the prenatal diagnosis of a variety of diseases and conditions, and the assessment of fetal characteristics such as fetal sex and chromosomal abnormalities, the new inventive methods provide substantially more information about the fetal genome in less time than it takes to perform a conventional metaphase karyotype analysis. In particular, the enhanced molecular karyotype methods provided by the present invention allow the detection of chromosomal aberrations that are not often detected prenatally such as microdeletions, microduplications and subtelomeric rearrangements.

We describe a method for interrogating the content and primary structure of DNA by microarray analyses and to provide comprehensive genetic screening and diagnostics prior to embryo transfer within an IVF setting. We will accomplish this by the following claims: 1) an optimized embryo grading system, 2) a less invasive embryo biopsy with reduced cellular contamination, 3) an optimized DNA amplification protocol for single cells, 4) identify aneuploidy and structural chromosome abnormalities using microarrays, 5) identifying sub-telomeric chromosome rearrangements, 6) a modified DNA fingerprinting protocol, 7) determine imprinting and epigenetic changes in developing embryos, 8) performing genome-wide scans to clarify/diagnose multi-factorial genetic disease and to determine genotype/haplotype patterns that may predict future disease, 9) determining single gene disorders with or without a known DNA mutation, 10) determining mtDNA mutations and/or the combination of mtDNA and genomic (nuclear) DNA aberrations that cause genetic disease.

Methods of identifying changes in genomic DNA copy number are disclosed. Methods for identifying homozygous deletions and genetic amplifications are disclosed. An array of probes designed to detect presence or absence of a plurality of different sequences is also disclosed. The probes are designed to hybridize to sequences that are predicted to be present in a reduced complexity sample. The methods may be used to detect copy number changes in cancerous tissue compared to normal tissue. The methods may be used to diagnose cancer and other diseases associated with chromosomal anomalies.

The invention relates to a method for detecting embryonic chromosome abnormality by virtue of blastochyle free DNA. The method comprises the following steps: acquiring blastochyle free DNA, detecting the blastochyle DNA, carrying out whole genome amplification of the free DNA, analyzing a product of the whole genome amplification, implementing fragmenting treatment on genome DNA, carrying out quantitative analysis and fragment size analysis on fragmented target DNA, constructing a library, sequencing by virtue of a computer and analyzing biological information. By virtue of high-throughput sequencing, the method disclosed by the invention can be used for overcoming shortcomings of a conventional DNA analysis method which is merely used for researching partial region of a single cell genome, and is capable of completely analyzing the genetic information of the single cell genome; the method is simple and convenient to operate, time-saving and efficient; meanwhile, by using the blastochyle free DNA as a detection sample, the method is convenient and safe to sample, so that the probability of later embryonic development abnormality is reduced and embryo is protected from being influenced in later development.

The present invention relates to a method of detecting a chromosome abnormality and a microarray chip for detecting a chromosome abnormality. More specifically, the present invention is directed to a method of detection for chromosome abnormality in order to easily diagnosing the health condition and disease of the subject by detecting of the chromosome abnormality rapidly and precisely, and to providing a probe for diagnosis of disease by identifying chromosome abnormality specific to the disease.

The invention relates to preimplantation genetic diagnosis on an embryo by using new single cell nucleic acid amplification technology, which mainly utilizes the signal amplification action of the mRNA (messenger Ribose Nucleic Acid) to detect the multiplication or deletion of DNAs (Deoxyribonucleic Acids) of certain chromosome segments. According to the central dogma, the mRNA is transcribed by using the DNA as the template, the abnormity of the number of copies of the DNA template can cause the change of the quantity of the mRNAs; and in the transcription process, the multiplication or deletion of the DNA template can be amplified on the mRNA level, and can be easily detected. The main technical method is as follows: the single cell mRNA of a human embryo is subjected to PCR (Polymerase Chain Reaction) amplification after being subjected to reverse transcription and addition of a common primer; by using the amplification product as the template, quantitative PCR with a 96-pore plate is used for detecting the expression level of 8 genes of a single cell or a small amount of cells; and the detection result can be compared with a normal diploid embryo, so as to distinguish the embryo sex of X chromosome recessive inheritance family history, and the multiplication and deletion of Trisomy 21, Trisomy 18, Trisomy 13 and sex chromosome and carry out genetic diagnosis on some common chromosome anomalies.

The invention relates to the field of medical detection and particularly discloses a noninvasive prenatal biological information detection and analysis method. For improving the accuracy of analyzing different quantities of to-be-detected samples, different detection and analysis methods are selected according to the different quantities of the to-be-detected samples, and different analysis policies are adopted for parameters obtained by the to-be-detected samples and parameters obtained by a normal reference set, so that the accuracy of analysis is improved to a greater extent. According to the method, the problem of inaccurate regression result caused by great influence of abnormal data on slope due to use of a least square method for regression in a process of correction by using a whole chromosome method in the prior art is well solved by adopting robust regression and CV regression, so that the robustness and accuracy of sample analysis are ensured. A set of analysis method for judging anomaly of sex chromosome by utilizing a ZZ value is originated; and the chromosome anomaly is judged by using the ZZ value method, so that related statistic judgment standards are better met, a result is more accurate, and the reliability of the method for judging the anomaly of the sex chromosome is enhanced.

The invention provides a method for determining an individual chromosome structure abnormity. The method includes the following steps: (1) determining first candidate chromosome structure abnormity types of an individual by using at least one of karyotyping and microarray chip analysis to obtain a first candidate chromosome abnormality type set; (2) performing whole genome sequencing on tissue samples of the individual and preforming first data analysis on obtained sequencing results to obtain a second candidate chromosome abnormality type set; (3) performing whole genome sequencing on singlecell samples of the individual and preforming second data analysis on obtained sequencing results to obtain a third candidate chromosome abnormality type set; and (4) determining a final chromosome structure abnormity type of the individual based on the first candidate chromosome abnormality type set, the second candidate chromosome abnormality type set and the third candidate chromosome abnormality type set.

The invention discloses a kit for multiplex real-time quantitative PCR (polymerase chain reaction) detection of chromosome aneuploid and application of the kit. The kit comprises n1 primer pairs used for amplifying multiple genes and non-genetic locus of a target chromosome and related probes and n2 primer pairs used for amplifying multiple genes and non-genetic locus of a reference chromosome and related probes, wherein the target chromosome is a chromosome subject to chromosome quantitative variation diseases, the reference chromosome is one or multiple chromosomes, and n1 and n2 are greater than or equal to 1 respectively. The kit can be used for noninvasive prenatal screening of Down's syndrome, Edward's syndrome, PaDow's syndrome and other chromosome abnormality diseases of pregnant women. The kit has the advantages of early stage, safety, noninvasiveness, accuracy, quickness and suitability for large-scale detection and clinical application, intrauterine infection, abortion and death of fetuses at middle and late stages of pregnancy of women can be avoided, and the objective of bearing and rearing better children is achieved.

The invention discloses an automatic chromosome segmentation and classification method based on deep learning. The method comprises the following steps: obtaining a chromosome image and filtering cell impurities by using an Attention U-Net model; segmenting chromosomes and cutting out each chromosome region image; extracting features from the obtained chromosome region, training a support vector machine, a random forest and a logistic regression classifier, and carrying out model integration by adopting a voting method so as to identify overlapped adhesion chromosomes or single chromosomes; respectively designing independent segmentation modules for the overlapped adhesion chromosomes, segmenting the overlapped chromosomes by utilizing a method of separating and then splicing, and segmenting the adhesion chromosomes by utilizing a convex defect point detection method; and respectively inputting the chromosome training data with marked types into 24 classification models ResNet20, ResNet32 and ResNet44 for training, then carrying out model integration by using a stacking method, and outputting a final chromosome classification result and a chromosome karyotype analysis chart so as to carry out chromosome anomaly identification.

The present invention discloses a genetic abnormality screening method for embryos. The present invention discloses a device. The device comprises a detection device, a genetic disease screening device and a chromosome abnormality screening device; the detection device is used for acquiring target area data of an embryo father, an embryo mother, a propositus and an embryo, and full genome data ofthe embryo; the target area data are genotypes of SNP loci in genetic disease related genes and peripheral regions; the genetic disease screening device is used for screening genetic diseases: effective SNP loci are selected according to target area data of a father and target area data of a mother; haplotypes are established according to genotypes of the effective SNP loci of the embryo father, embryo mother and propositus, and then genetic diseases are screened by performing haplotype linkage analysis on the embryo; and the chromosome abnormality screening device is used for screening chromosome abnormality and judging whether the embryo has chromosome abnormality according to the whole genome data of the embryo. The genetic abnormality screening method for embryos has great applicationand popularization value for genetic screening before embryo implantation.

The invention relates to a method for for detecting mutation and HRD scoring of tumor patient to guide medication, which comprises the following steps: detecting a tumor tissue sample and a control leukocyte sample thereof on the basis of taking a BAM file as an input file, and detecting mutation information of an HRR pathway in panels of different sample types and large-fragment chromosome abnormality HRD caused by gene recombination repair defects, the method for detecting the tumor tissue sample comprises the following steps: 1) detecting mononucleotide mutation of an HRR pathway; 2) detecting the loss of heterozygosity (LOH), telomere allele imbalance (TAI) and large fragment state transition (LST) of the HRR region, wherein the HRD score is equal to the weighted sum of LOH, TAI and LST scores; the invention provides a mutation and HRD scoring medication guidance method for tumor patients. According to the method, a traditional method that the HRD value score is calculated through whole genome detection and is not beneficial to clinical actual effect is optimized, the calculation speed is increased, the detection effect is good, the detection result is accurate, and the requirements of actual application can be well met.

The invention discloses a detection kit for chromosome abnormality before embryo implantation. The kit is characterized by comprising a single cell amplification reagent, a fragmentation reagent, a library construction reagent, a DNA purification reagent, and negative and positive quality control substances. The invention also discloses a detection method of the aforementioned kit. Compared with the prior art, the invention establishes a method using embryo blastula stage cells for preimplantation chromosome detection, adopts innovative single cell amplification technology, improves the uniformity (97% or above) and coverage (92% or above) of single cell amplification, and has the advantages of rapid detection, wide coverage, high resolution, high accuracy and moderate flux.

The invention discloses a screening kit for the seventh chromosome abnormality diseases of a fetus. The screening kit comprises a reagent for detecting the PLGF (placental growth factor) level of the serum or urine of a pregnant woman. The invention further discloses an application for the screening kit for the seventh chromosome abnormality diseases of a fetus in detection for the PLGF level of the serum or urine of a pregnant woman. The kit disclosed by the invention can be used for evaluating whether the seventh chromosome of the fetus is normal or not, and is good in clinical application prospect.

The invention discloses a chromosome abnormality detection device. Aiming at solving the problems that conventional chromosome abnormality detection and analysis are based on a reads number statistical model, can only remove duplicate reads compared in the same initial position of a genome but cannot remove mutually overlapped reads with different initial positions, the device can effectively remove the duplicate reads and overlapping areas caused by amplification preference of a whole genome of a single cell by introduction of a sequence coverage statistical model, data uniformity is remarkably improved, then data noise is reduced, detection rate of positive specimens is increased, and false positive rate is reduced.

The invention discloses a method for prenatal screening chromosome abnormality and an application thereof. The invention comprises the following steps: totally calculating various measurement indicators of normal pregnant women in China to obtain the median of serum marker of single pregnancy people in each gestational week, the median of serum marker of double pregnancy people in each gestational week and the median of translucent thickness of fetal nape of normal pregnant women in each gestational week; detecting the serum marker, fetal number, translucent thickness of fetal nape of the detected pregnant women to determine the gestational weeks of the pregnant women; correcting according to the weight of the detected pregnant women and finally calculating the multiples of the median value (MoM value) of serum marker; then comparing correspondingly the multiples of the median of serum marker of the detected women with the median of serum marker of normal pregnant women according to the gestational weeks of the pregnant women and fetal number, calculating the likelihood ratio of the serum marker of the detected pregnant women to obtain the risk rates of 21 trisome, 18 trisome or 13 trisome and the risk rate of NTD risk.

The invention provides a method for detecting chromosome abnormality of embryos by the aid of blastocyst cultivation solution without zona pellucida. The method which is particularly an in-vitro non-therapeutic method for detecting the chromosome abnormality of the embryos by the aid of the blastocyst cultivation solution includes steps of (a), providing the cultivation solution from blastocyst cultivation systems; (b), carrying out gene detection on the cultivation solution so as to authenticate whether chromosomes of the embryos are abnormal or not. The zona pellucida of the embryos in the blastocyst cultivation systems is removed before the embryos are cultivated, the embryos are cultivated in the blastocyst systems for 3-6 days, and preferably, the cultivation solution is separated from the cultivation systems after 4 days. The method has the advantages that contamination and interference risks due to redundant sperms and parent-source granular cells in IVF (in-vitro fertilization) and ICSI (intracytoplasmic sperm injection) technical procedures can be eliminated, and whether the chromosomes of the embryos are abnormal or not can be accurately authenticated.