150 results about "X chromosome" patented technology

Blood plasma of pregnant women contains fetal and (generally>90%) maternal circulatory extracellular DNA. Most of said fetal DNA contains ≦500 base pairs, said maternal DNA having a greater size. Separation of circulatory extracellular DNA of <500 base pairs results in separation of fetal from maternal DNA. A fraction of a blood plasma or serum sample of a pregnant woman containing, due to size separation (e.g. by chromatography, density gradient centrifugation or nanotechnological methods), extracellular DNA substantially comprising ≦500 base pairs is useful for non-invasive detection of fetal genetic traits (including the fetal RhD gene in pregnancies at risk for HDN; fetal Y chromosome-specific sequences in pregnancies at risk for X chromosome-linked disorders; chromosomal aberrations; hereditary Mendelian genetic disorders and corresponding genetic markers; and traits decisive for paternity determination) by e.g. PCR, ligand chain reaction or probe hybridization techniques, or nucleic acid arrays.

An IVF system for successfully utilizing spermatozoa separated into X-chromosome bearing and into Y-chromosome bearing population for insemination. The IVF system includes fertilization medium that can shorten the time from insemination to cleavage and a portable incubator for the transportation of maturing oocytes and inseminated oocytes comrprising a straw (19) and an incubation element (20) that can be sealed with a cap (22).

The invention relates to dihydroxyphenylalanine derivatives, the production thereof, and pharmaceutical compositions containing said dihydroxyphenylalanine derivatives. The invention further relates to the use of said dihydroxyphenylalanine derivatives and pharmaceutical compositions for the treatment and prevention of movement disorders, neurodegenerative diseases, Alzheimer, Parkinson's disease, hemiatrophy hemiparkinsonism, Parkinson's syndrome, Lewy bodies disease, frontotemporal dementia, Lytico-Bodig disease (Parkinsonism-dementia-amyotrophic lateral sclerosis, striatonigral degeneration, Shy-Drager syndrome, sporadic olivopontocerebellar degeneration, progressive pallidal atrophy, progressive supranuclear palsy, Hallervorden-Spatz disease, Huntington's disease, X chromosome-linked dystonia (Morbus Lubag), mitochondrial cytopathy with striatal necrosis, neuroacanthocytosis, restless leg syndrome, Wilson's disease.

The present invention provides methods for non-invasive determination of X and/or Y chromosomal abnormalities indicative of aneuploidy or sex mosaicisms in a maternal sample by detecting and determining the relative contribution of genetic sequences from the X chromosome and/or the Y chromosome in the maternal sample.

The invention belongs to the medical detection field, and discloses a method and a system for noninvasive detection of fetus chromosome aneuploid. The disclosed detection method and system also relate to a method and a system for elimination of sequencing GC preference in chromosomes and among chromosomes and a method and a system used for the relation model of the Z values of X and Y chromosomes in a normal male fetus. Through elimination of influences of sequencing GC preference in chromosomes and among chromosomes, the relation model of the Z values of X and Y chromosomes in a normal male fetus is built, and the determination threshold of difference between the theoretical value and the actual value of the Z value of the X chromosome is built. The accurate detection of fetus chromosome aneuploid, especially sex chromosome aneuploid is achieved.

The present invention provides novel compounds of Formula (I), and pharmaceutically acceptable salts, solvates, hydrates, polymorphs, co-crystals, tautomers, stereoisomers, isotopically labeled derivatives, prodrugs, and compositions thereof. Also provided are methods and kits involving the compounds of Formula (I) or (II), or compositions thereof, for treating or preventing a wide range of diseases (e.g., proliferative diseases (e.g., cancers, benign neoplasms, angiogenesis, inflammatory diseases, autoimmune diseases) and metabolic diseases (e.g., diabetes (e.g., type 2 diabetes, gestational diabetes)) in a subject. Treatment of a subject with a disease using a compound of Formula (I) or (II), or compositions thereof, may downregulate the expression and/or inhibit the activity of a kinase (e.g., a tyrosine kinase, such as a Tec kinase, in particular, bone marrow on X chromosome kinase (BMX)), and therefore, suppress tyrosine kinase singling in the subject.

Materials and Methods for the separation of X- and Y-chromosome bearing sperm, for example in a semen sample, are provided. The methods involve contacting the semen sample with a binding agent, such as an antibody, that specifically binds to an antigen that is specific for an X- or Y-chromosome. Kits for use in the methods are also provided.

The invention relates to the technical field of biology, and relates to a human X-chromosome composite amplification system composed of 20 short serially-connected repetitive sequences and applications thereof. The composite amplification system comprises 20 pairs of primers and is capable of amplifying 19 STR sites: DXS6795, DXS6803, DXS6807, DXS9907, DXS7423, GATA172D05, DXS101, DXS9902, DXS7133, DXS9810, GATA31E08, DXS6800, DXS981, DXS10162, DXS6809, GATA165B12, DXS10079, DXS10135, and HPRTB, and one sex recognition site: Amelogenin. Five-color fluorescence labeling is adopted by the system, the size of amplification products is in a range of 85 to 450 bp, the operation is simple, and the individual recognition performance is high. The sites provided by the provided composite amplification system are highly compatible to the conventional commonly-used X-STR kits, moreover, sites with high polymorphism information are provided, and the provided composite amplification system can be applied to paternity identification related with X-chromosome, individual recognition, and auxiliary detection of X-chromosome sex-linked hereditary diseases.

The invention provides primers, a method and a chip for detecting alpha and/or beta-thalassemia point mutation and deletion mutation based on whole-gene capture sequencing and application of such primers, such method and such chip. The primers, the method, the chip and application thereof have the advantages that through designing of capture probes, relevant genes involved in alpha-thalassemia and beta-thalassemia are enriched and all mutation information including SNP and indel in full-length sequences of genes is detected; through addition of autosome, X-chromosome and Y-chromosome regions as well as upstream and downstream regions of coded genes as references, structure variations such as SNV and CNV are detected; compared with existing various hotspot mutation site detection technologies, the method is capable of detecting hotspot mutation information as well as some rare mutations and undiscovered new mutation types to detect and analyze full-length sequence specificity of target genes, fully covers the mutation types and makes up the defect that a conventional detection method easily causes missing detection of low-frequency mutations and rare mutations greatly.

The invention discloses a kit. The kit comprises a probe. The probe is fixed to a solid substrate or is free in a liquid phase. The probe can specifically recognize exon regions of specific 29 genes of an X chromosome and at least another region of the X chromosome. A distance, on the X chromosome, of any two adjacent regions in the regions specifically recognized through the probe of the X chromosome is not more than 10 M. The probe can specifically recognize an exon region of an SRY gene of a Y chromosome and at least another region of the Y chromosome. A distance, on the Y chromosome, of any two adjacent regions in the regions specifically recognized through the probe of the Y chromosome is not more than 10 M. In addition, the invention also discloses uses of the kit in detection of sexual development related genes, a method of detecting SRY gene variation, a device for detecting the SRY gene variation and a method of detecting sexual development related gene variation.

This invention relates to a soluble form of PHEX, PHEX being a type II integral membrane glycoprotein. This enzyme is the gene product of a phosphate-regulating gene with homologies to endopeptidases on the X chromosome. To produce a soluble form of PHEX, the transmembrane anchor domain has been modified to encode a signal peptidase coding sequence. The soluble PHEX therefore comprises the active ectodomain. An inactive mutant of PHEX is also an object of this invention. Both soluble and inactive mutant forms of PHEX can be used to screen ligands to PHEX. These ligands can also be used as substrates or inhibitors of PHEX. PHEX being phosphaturic, an inhibitor thereof will be used to treat phosphaturia and/or hypophosphatemia. On the opposite, a substrate for PHEX or PHEX itself can be used to treat hyperphosphatemia.

The invention belongs to the technical field of genetic engineering, in particular to specific molecular markers of sex chromosomes of Tilapia nilotica, wherein the nucleotide sequences of specific molecular markers NtY1 and NtY2 of a Y chromosome are respectively shown in SEQID No.1 and SEQID No.2, and the nucleotide sequence of a specific molecular marker NtX1 of a X chromosome is shown in SEQID No.3; in the invention, a genetic sex identification method of Tilapia nilotica is established by using the specific molecular markers of the sex chromosomes of the Nile tilapia, and through carrying out PCR amplification on any one or more than one of the specific molecular markers of the sex chromosomes, YY super-male fishes, XY milter and XX female fishes can be identified economically, quickly and accurately, thus being beneficial to realizing the large-scale production of holandric Tilapia nilotica fries through YY super-male fish breeding routes, obviously improving the breeding production of Tilapia nilotica, reducing the breeding cost, and improving the economic benefit.

The invention relates to members of the MAGE-B family of nucleic acid molecules. These molecules differ from the previously described MAGE nucleic acid molecules in that members of the MAGE-Xp family do not hybridize to the previously identified MAGE sequences. Further, the members of the MAGE-B family are found on the Xp arm of the X chromosome rather than on the Xq chromosome, as was the case with the previously identified MASGE genes.

The invention discloses a kit and device for detecting aneuploidy of chromosomes. The device comprises the following modules: a detection module which is used for carrying out high-flux sequencing on a sample to be detected so as to obtain sequenced data; a first judgment module which is used for calculating the chromosomes in the form of cut windows so as to obtain a Z value of each chromosome and preliminarily judging whether each chromosome has aneuploidy or not according to the Z value of each chromosome; a first calculation module which is used for calculating to obtain a first concentration value of fetus DNA (Deoxyribonucleic Acid) in the sample to be detected; a second calculation module which is used for calculating according to an X chromosome or a methylation method so as to obtain a second concentration value of the fetus DNA in the sample to be detected; a second judgment module which is used for judging whether the first concentration value of the fetus DNA in the sample to be detected and the second concentration value of the fetus DNA in the sample to be detected are fit with a curve (y=x) or not; a first determination module which is used for determining that the copy number of each chromosome has aneuploidy. The detecting device has the advantage that the accuracy of detecting the aneuploidy of the chromosomes is higher.

The invention relates to an amplification composition for detecting abnormal number of chromosomal aneuploid and a rapid detection kit, and belongs to the technical field of biology. The amplification composition can be used for amplification detection of STR sites related to 8 21# chromosomes, 6 18# chromosomes, 6 13# chromosomes and 3 X chromosomes and amplification detection of four amelo; all sites can be amplified by a quantitative fluorescent PCR (QF-PCR) technology, so as to detect the abnormal number of 21, 18, 13, X and Y chromosomal aneuploid. According to the kit, detection cycle is short, so the result can be obtained within 5 hours after obtaining the sample; the sensitivity is high; DNA at nanogram level, which is equal to DNA contained in 100 cells, is needed for each detection, so few samples are needed; 1 to 2ml of amniotic fluid can be collected to meet the demand; due to high sensitivity, a chimera containing more than 10% of trisomies can be detected.

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.

Current invention is about the sex-specific separation of sperm in high purity. For more details, this invention is about the methods for improving the separation efficiency of sperm by removing factors deteriorating separation efficiency by utilizing several parameters and adjusting few conditions for the purpose of separating sperm into X-chromosome bearing and Y-chromosome bearing groups in high purity. Current invention, for the purpose of separating X-chromosome bearing and Y-chromosome bearing sperm based on physiological characteristics, utilize the difference of sperm's nucleus width as a parameter to recognize the difference in DNA content between X and Y chromosome. Current invention is about the sex-specific separation of sperm in high purity. This invention, unlike any known conventional methods, requires neither special conditions nor special treatments, can be conducted in a more realistic environment and, as a results, sex-specific sorting of sperm can be conducted without losing viability or motility. Therefore, the limitation conferred on sorting efficiency by the motility can be overcome by our invention.

The invention relates to a human parthenogenetic embryo stem cell line with two active X chromosomes and derivatives thereof. A karyotype of the human parthenogenetic embryo stem cell line is 46, XX before 10 generations; the karyotype of the cell line becomes a chimera from the 20th generation; all cells of the cell line lose an active X chromosome at the 35th generation; and in the inactivation detection of the X chromosome, only the state of the active X chromosome is maintained all along, but the presence of the inactivated X chromosome is not discovered. The parthenogenetic activation can be achieved by adopting an artificial activation condition causing a second polar body to be discharged; therefore, the human parthenogenetic embryo stem cell line and the derivatives thereof can be obtained. The cell line and the derivatives thereof have important significance on researching the characteristics of the cell on genetics and epigenetics and further applying the cell to clinically treating certain diseases; and a cell source for cell replacement therapy can be obtained by transforming genes of the cell or modifying the genes on the epigenetics.

The invention discloses a method for cultivating a gender-controlled dzo by hybridizing a common cattle and a yak. The common cattle serves as a male parent, the yak serves as a female parent, and a male parent frozen semen containing an X or Y chromosome is input in a uterus of the female parent to complete semen deposition; and when a male dzo is needed, the male parent frozen semen containing the Y chromosome is adopted, and when a female dzo is needed, the male parent frozen semen containing the X chromosome is adopted. An accuracy rate for separating semen containing the X and Y chromosome is higher than 90% at present, so that more than 90% of the dzo cultivated by using the X chromosome to complete semen deposition is female, more than 90% of the dzo cultivated by using the Y chromosome to complete semen deposition is male, accordingly sexualization male dzos and female dzos can be cultivated through the method, the male dzos and the female dzos with different male parents can be cultivated according to needs, and quantity of high-quality gender-controlled dzos can be rapidly increased.

Provided are an androgenetic haploid stem cell line, preparation method and use thereof. Specifically, provided are an androgenetic haploid cell and androgenetic blastula. The nucleus of the cell or the blastula only comprises a haploid autosome and a sex chromosome, the sex chromosome being the X chromosome and containing no Y chromosome. The androgenetic haploid cell of the present application can replace a spermatid as a ligand to generate a fertile animal individual, thus facilitating gene manipulation and being capable of transferring genetic information to the offspring.

The invention provides a male specific DNA marker of oplegnathus punctatus, wherein the sequence of the DNA fragment on a Y chromosome is shown in SEQ ID NO: 1; the sequence of the DNA fragment on a Xchromosome is shown in SEQ ID NO: 2. The DNA fragment on the Y chromosome is 12 bp more than the fragment on the X chromosome, and the fragment is the DNA fragment peculiar to the Y chromosome. According to the invention, two homologous and different DNA fragments on the X and Y chromosomes are screened from the whole genome sequence of the oplegnathus punctatus, and a method for identifying theheredity sex of the oplegnathus punctatus is further established; and the method can be used for quickly, accurately and effectively distinguishing the heredity sex of the oplegnathus punctatus. According to the method, a specific target band amplified in a male individual cannot be amplified by a female individual, and the product can be resolved by agarose electrophoresis, so that the time for accurately identifying the heredity sex of the oplegnathus punctatus is shortened, and the method is suitable for identifying the heredity sex of the oplegnathus punctatus in a simple environment of aculture farm, and the detection time and the cost are saved. The method has important significance and application value in sex identification, seedling breeding and family selection and breeding of the oplegnathus punctatus.