43 results about "X chromosome" patented technology

The present invention discloses a kit for detecting Turner syndrome based on the MLPA-NGS method, and a method for using and application thereof, wherein the kit comprises a CNV probe for detecting the copy number of the DNA position to which the probe binds, a SNP probe for giving the SNP genotype of the hybridization position of the probe on the DNA, and a universal primer with an index sequence for amplifying the connected probe; each pair of probes is provided with a characteristic sequence for distinguishing, so as to analyze the number of reads of each probe for the sequencing result, thereby analyzing the SNP typing, the sequencing quality of the sample, the parent-child relationship of the core family, the parental origin of the X chromosome, the relative copy number of the X chromosome, and the parental origin of the X chromosome mosaic. The MLPA-NGS method of the above kit has a large amount of detection information, can achieve the effect of the SNP chip for the copy number of the X chromosome, can achieve the effect of the STR for the analysis of the parental origin of the X chromosome, has high sensitivity, is easy to operate, and is convenient for large-scale promotion.

The present invention relates to methods of treating pleasant sensation loss in a human subject by administering a SIRT6 activator. The invention also provides methods of treating a pleasant sensation loss in a human female subject by administering a SIRT6 activator, wherein the female subject can be recognized by, for example, the presence of two X chromosomes or circulating a female hormone.

The present invention provides an in vitro method for determining the X chromosome reactivation (X-Ra) level of a female subject, the method comprising the steps of (a) determining the methylation status of at least 10 CpG sites of Table 1 in a DNA-containing sample from the female subject; and (b) calculating the fraction of the CpG sites analyzed in step (a) that are hypomethylated. The invention also provides in vitro methods for determining the biological age of a female subject, diagnosis and / or prognosis of an age-related disease or disorder or an infection, and for determining the gestational age of a fetus.

The invention discloses an X-chromosome specific molecular marker of micropterus salmoides and application of the X-chromosome specific molecular marker. On the basis of a whole genome sequencing technology, the X chromosome specific molecular marker of micropterus salmoides is obtained. Aiming at the molecular marker, the invention also provides a detection primer pair and a detection method of the molecular marker, and by detecting the molecular marker, rapid and accurate screening of YY supermale fish individuals can be realized to obtain a YY supermale fish population. The obtained YY super-male fish group and a proper female fish group are jointly fed and bred, and then the micropterus salmoides all-male fingerling can be obtained. If the YY super-male fish group and the YY pseudo-female fish group are jointly bred and bred, largemouth bass offspring which is all YY super-male fish can be obtained. Compared with a traditional all-male breeding method of the largemouth black bass, the all-male breeding method of the largemouth black bass is beneficial to simplifying all-male breeding steps of the largemouth black bass, shortening breeding time, and beneficial to cultivation of all-male largemouth black bass fingerlings and popularization of single-male breeding of the largemouth black bass.

A sex difference-based mixed pollutant key element screening method belongs to the technical field of environmental health monitoring and biological analysis, solves the technical problems of strong subjectivity, low precision and low efficiency of the existing screening method, and comprises the following steps: S1, obtaining biological factor data; s2, acquiring in-vivo pollutant element data; s3, regression model screening: screening out a regression model with the best performance in pollutant key element screening; and S4, screening key elements. According to the method, a multi-dimensional fusion model is created by combining X chromosome related genes, typical physiological indexes and pollution element data in an organism; on the basis, through an automatic model trained by machine learning, manual intervention is reduced, the manpower and material resource cost is effectively reduced, the objectivity and efficiency of the screening process are improved, and according to the innovation, complex data are automatically processed through data analysis, and the accuracy and consistency of operation are improved.

The invention discloses a molecular marker primer for X chromosome of Siniperca chuatsi, which is characterized in that: the primer is a primer pair 1 or a primer pair 2, the primer pair 1 comprises a Contig-1 upstream primer and a Contig-1 downstream primer, the primer pair 2 comprises a Contig-2 upstream primer and a Contig-2 downstream primer, wherein the nucleotide sequence of the Contig-1 upstream primer is shown in SEQ ID NO: 1, the nucleotide sequence of the Contig-1 downstream primer is shown in SEQ ID NO: 2, the nucleotide sequence of the Contig-2 upstream primer is shown in SEQ ID NO: 3, and the nucleotide sequence of the Contig-2 downstream primer is shown in SEQ ID NO: 4. Also disclosed is a method for identifying YY super male fish of Siniperca chuatsi and the application of the primer or method in all-male breeding of Siniperca chuatsi.

The invention belongs to the technical field of biological detection, and relates to a composite amplification kit for detecting X-STR gene loci, in particular to a composite amplification kit for simultaneously detecting 21 X-STR gene loci and application of the composite amplification kit in individual recognition and genetic relationship identification. Seven linkage groups are used in the detection kit, and the defect that in the prior art, the linkage relation of gene loci is not very clear, or few linkage groups are used, and the identification efficiency is low due to the fact that few linkage groups are recognized on X chromosomes is overcome. The detection kit provided by the invention can improve the identification efficiency and accuracy, is suitable for forensic individual identification and special genetic relationship identification, and has a good forensic application prospect.

The present invention belongs to the field of forensic genetics, specifically a forensic composite amplification kit for detecting 50 SNP sites on chromosome X based on MALDI-TOF MS platform. The main technical methods of the present invention are single base extension technology (SBE-PCR) and matrix-assisted laser desorption ionization time-of-flight mass spectrometry (MALDI-TOF MS) technology, which uses X-SNP genetic markers to identify the gender and identity of individuals of unknown origin, and also has good effects in complex kinship identification. The kit includes 50 pairs of primer mixtures for composite amplification, and simultaneously amplifies 50 SNP sites on chromosome X, so that 50 X-SNPs can be detected at one time more conveniently, and the identity of unknown individuals can be identified.

Technical Problem The purpose of the present invention is to provide a method which enables sex selection in a non-human animal, and enables a coming individual to have no recombination gene, and a transgenic non-human animal giving birth to individuals of only one sex, which is used in the method.Solution to Problem The present disclosure relates to a male transgenic non-human animal in which one of an X chromosome and a Y chromosome comprises an exogenous embryonic death induction gene operatively connected to a drug-responsive promoter. The present disclosure also includes a method for producing a male transgenic non-human animal for sex selection.

The invention discloses an SNP (Single Nucleotide Polymorphism) molecular marker related to a pig body length character and application, and belongs to the technical field of biology. The SNP molecular marker is located on a pig X chromosome, and an SNP site is located at the 467th basic group of a pig BHLHB9 gene coding region (A in ATG in the coding region is 1); the basic group of the SNP site is C / T missense mutation. The SNP molecular marker related to the pig body length character is disclosed for the first time, is used for distinguishing individuals with medium and short body lengths and individuals with long body lengths, is suitable for domestic pig breeds and foreign pig breeds, and is wide in pig breed application range. The method for detecting the genotype of the SNP molecular marker disclosed by the invention can be used for quickly and effectively predicting the body length of a pig in an early stage at low cost, has a wide application prospect in the aspect of improvement of a pig variety strain, and can obtain an excellent economic value.

To provide a sperm diluent capable of obtaining a sperm population rich in X-chromosome-bearing sperm with acrosome retention by a simple method, to provide a method for preparing mammalian sperm, to provide an artificial insemination method, and to provide an in vitro fertilization method.SOLUTION: A sperm diluent induces an acrosome reaction in Y chromosome-bearing sperm to obtain a sperm population rich in X chromosome-bearing sperm that retain an acrosome and contains a TLR7 ligand and has a citric acid content of 4 mM or less. A method for preparing mammalian sperm comprises inducing an acrosome reaction in Y chromosome-bearing sperm by culturing with the sperm diluent to obtain a sperm population rich in X chromosome-bearing sperm that retain an acrosome.SELECTED DRAWING: Figure 3

A method for providing assistance in determining the fertility of a female subject according to the present invention comprises a step for generating information for determining the fertility of the female subject by using the proportion of cells in which an X chromosome has been lost in somatic cells collected from the female subject.

The present application discloses a digital PCR detection reagent for DMD gene detection, which relates to the technical field of gene detection and includes exon primer and probe sequences shown in SEQ ID NO: 1 to NO: 237 and internal reference probe sequences shown in SEQ ID NO: 238 to SEQ ID NO: 297. On the basis of optimizing the design of primers and probes, the present invention optimizes the signal resolution ability of digital PCR. For 79 exons of DMD, 1 pair of primer-probe pairs is designed for each exon respectively for copy number quantitative detection based on the technology of ultra-multiplex PCR. At the same time, 20 pairs of primer-probes are designed for copy number quantitative detection by selecting 20 different sites in the fragments on the X chromosome that do not contain the DMD gene as internal references, realizing the multiplex quantification of all exons of DMD.

The utility model provides a sex chromosome combination demonstration device, a horizontally arranged transparent roller and vertically arranged side supporting seats are arranged on a demonstration platform, two ends of the transparent roller are rotatably connected to the side supporting seats, a detection switch is arranged above the transparent roller between the side supporting seats at two sides, and the detection switch is connected with the transparent roller. An X chromosome simulation block and X and Y chromosome simulation blocks are placed in a containing cavity of the transparent roller, after the transparent roller is rocked to rotate, when the upper side faces of the X chromosome simulation block and the X and Y chromosome simulation blocks form different chromosome combinations, the detection switch conducts a related circuit in the indicator lamp, and the purpose is to demonstrate the matching relation between sex chromosomes and sex.

A sex chromosome typing method and apparatus, a device, a medium, and a product. The method comprises: first, on the basis of a Y chromosome concentration of a nucleic acid sample to be tested in a cfDNA sample to be tested, determining whether the nucleic acid sample to be tested carries a Y chromosome; in a branch of not carrying a Y chromosome, on the basis of an X chromosome concentration and an X chromosome concentration range, determining a sex chromosome type of the nucleic acid sample to be tested; and in a branch of carrying a Y chromosome, using the ratio of the X chromosome concentration to the Y chromosome concentration as a concentration ratio to be tested, and, on the basis of the concentration ratio to be tested and Cauchy distribution functions respectively corresponding to at least two preset sex chromosome types, determining the sex chromosome type of the nucleic acid sample to be tested, thereby solving the problem that conventional typing methods rely on a sample set, and reducing testing costs and maintenance costs while ensuring the accuracy of sex chromosome typing.

Provided herein are methods for determining the ploidy state of one or more chromosome in a developing fetus. The subject methods provide for increase accuracy by utilizing information about the mosaicism level of one or more chromosomes of interest in the mother of fetus. The mosaicism level of one or more chromosomes of interest is determine for the maternal tissue that is used as the source of nucleic acid for genetic analysis that are used to determine the ploidy state of the fetal chromosome or chromosomes of interest. For example, if 5% white blood cells of mother are missing a copy of the X chromosome, this information can be used when determining fetal ploidy level, rather than operating under the assumption that the maternal X chromosome are present in two copies. Utilization of the mosaicism data can be used to increase the reliability and accuracy of the determination of the ploidy state of a chromosome of interest.

The invention relates generally to the field of genome editing and provides DNA recombinases, which efficiently and specifically recombine genomic target sequences via the fusion of recombinase monomers. More specifically, the invention provides a method to generate a fusion protein for efficient and specific genome editing, comprising a complex of recombinases comprising at least a first recombinase enzyme, a second recombinase enzyme and at least one linker, wherein said first recombinase enzyme and said second recombinase enzyme specifically recognize a first half-site and a second half-site of an upstream target site and / or a downstream target site of a recombinase; wherein said first recombinase enzyme and said second recombinase enzyme are interconnected via a linker; and wherein said linker comprises or consists of an oligopeptide. The invention further relates to fusion proteins generated with this method. The invention also discloses designer-recombinases, which catalyze the inversion of a DNA sequence present in the int1h regions on the human X chromosome. The invention further relates to nucleic acid molecules encoding said DNA recombinases and fusion proteins, as well as to the use of said fusion proteins, DNA recombinases and nucleic acid molecules in a pharmaceutical composition.

The present invention discloses a primer and probe combination for detecting extremely imbalanced mixed samples by using non-recombinant region loci of X and Y chromosomes, and an application thereof, belonging to the technical field of forensic detection. The primer and probe combination of the present invention includes a primer and probe for amplifying the X chromosome, and a primer and probe for amplifying the Y chromosome. The present invention has developed a primer and probe combination for the non-recombinant regions of X and Y chromosomes, and established a simple, efficient and sensitive digital PCR detection method, providing a new technical means for the detection of extremely imbalanced mixed samples in forensic medicine.

The present application relates to the technical field of sex chromosome STR identification, and particularly relates to an X chromosome STR locus composite amplification primer group, a 9-color fluorescent label composite amplification kit and application thereof.The composite amplification primer group comprises 45 pairs of specific amplification primer pairs, the 45 pairs of specific amplification primer pairs include 44 X chromosome STR loci and 1 pair of specific amplification primer pairs of a gender locus AMEL, and the nucleotide sequences of the primer pairs in the composite amplification primer group are shown as SEQ ID NO.1-90.The specificity of each primer in the composite amplification primer group is relatively strong, no primer dimer or interaction is generated during composite PCR amplification, the amplification efficiency difference of each pair of primers is relatively small, and the identification sensitivity is relatively high.The composite amplification primer group provides a molecular basis and core necessary reagent for simultaneously detecting 44 X-STR loci at a time.

The present invention provides an in vitro method for determining the X chromosome reactivation (X-Ra) level of a female subject, the method comprising the steps of (a) determining the methylation status of at least 10 CpG sites of Table 1 in a DNA-containing sample from the female subject; and (b) calculating the fraction of the CpG sites analyzed in step (a) that are hypomethylated. The invention also provides in vitro methods for determining the biological age of a female subject, diagnosis and / or prognosis of an age-related disease or disorder or an infection, and for determining the gestational age of a fetus.

Providing AAV-mediated targeting of miRNAs in the treatment of X-linked disorders. [Solution] This disclosure relates to the targeting of miRNAs to activate the expression of genes on an inactivated X chromosome. This gene therapy is useful for treating X-linked disorders, including Rett syndrome. This disclosure provides a novel gene therapy approach for treating X-linked disorders, such as Rett syndrome, which is caused by X-linked loss-of-function mutations. Polynucleotides and gene therapy vectors targeting one or more miRNAs known to inactivate one or more genes on the X chromosome are provided herein. The polynucleotides and vectors disclosed herein are designed to inhibit miRNAs and thereby reactivate the wild-type gene of interest on the X chromosome that has been inactivated.

The invention discloses a primer group, a chip, a kit and a method for detecting X chromosome inactivation offset by using a trace DNA template. The primer group comprises a primer group 1, a primer group 2 and a primer group 3, wherein the primer group 1 is an upstream primer and a downstream primer which have sequences shown as SEQ ID NO: 1 and SEQ ID NO: 2 and are used for amplifying AR genes; and / or a primer group 2: upstream and downstream primers for amplifying the PGK gene, wherein the sequences of the upstream and downstream primers are shown as SEQ ID NO: 3 and SEQ ID NO: 4. The designed AR gene and PGK gene fluorescence labeling primer pair has good specificity, and the constructed SXCI detection method has high sensitivity and reliability.

Methods for correlating a genetic variant with intraretinal fluid as a marker of response to anti-VEGF therapy in age-related macular degeneration (AMD). Further methods for correlating a genetic variant with visual acuity, anatomical outcomes, or treatment frequency are disclosed herein. The genetic variants identified were found in a non-gene region on the X chromosome p.22.3 in the MICOM gene in the NTRK3 gene and in the ANK2 gene.

Aspects of this invention relate to a novel monoclonal antibody specifically designed to exhibit selective binding affinity towards antigens present predominantly in X chromosome sperm. The antibody is engineered for applications to sex select sperm for cattle breeding purposes.

The invention relates to a method for judging the correlation degree between fetal X chromosome concentration and each physical sign index of a pregnant woman, which comprises the following steps: acquiring prenatal detection data of the pregnant woman, including the proportion of fetal X chromosome free DNA fragments, detection weeks of pregnancy, the BMI value of the pregnant woman and other physical sign indexes of the pregnant woman; according to the range of different indexes corresponding to the obtained prenatal detection data of the pregnant woman, removing abnormal data in the range; the Spearman rank correlation analysis method is applied to the processed prenatal detection data of the pregnant woman to obtain the correlation degree between each sign index of the pregnant woman and the X chromosome concentration of the fetus, and the indexes are subjected to significance test. And performing normalization processing on the pregnant woman sign index data without abnormal values, establishing a correlation model of pregnant woman indexes and X chromosome concentration by adopting a grey comprehensive analysis method, performing cross validation with a Spearman analysis method, and determining a correlation analysis model of the fetal X chromosome concentration and the pregnant woman indexes. The invention aims to solve the problem of inaccurate detection result of a single statistical method.

Embodiments of the present invention relate generally to processes, systems, and compositions useful in manipulating a ratio of viable X chromosome bearing sperm to viable Y chromosome bearing sperm in at least one sperm population and useful for preserving the resulting manipulated sperm population. In some embodiments a cryoprotectant may be incorporated into various medias used in manipulating the sperm sample, such as in a staining media, a sheath fluid, and a collection media.

The invention relates to a kit and a method for detecting pathogenic genes of hereditary retinal degeneration diseases linked with X chromosomes, the kit comprises a library hybridization reagent, the reagent comprises a probe group for detecting XLIRDs pathogenic genes, and the probe group comprises capture probes capable of simultaneously and specifically capturing RPGR, RP2, RS1 and CHM pathogenic genes; the capture probe for capturing the RPGR pathogenic gene comprises a probe with a sequence shown as SEQ ID NO.1-96, and a capture probe for a high GC region of the RPGR gene, and the sequence of the capture probe is shown as SEQ ID NO.24-55. Aiming at the four pathogenic genes, variation spectrums and sequence characteristics of the four pathogenic genes are comprehensively analyzed, an amplification region range is optimized, and a high-density capture probe group containing exons, introns, UTR regions and upstream and downstream 20kb regions is designed. Particularly aiming at a high-GC-content region of a No.15 exon of the RPGR gene, a probe sequence and a capture strategy are adjusted to realize efficient capture of the high-GC-content region; in a library PCR enrichment stage, amplification enzymes in the system are screened and optimized, and an amplification enzyme combination most suitable for the gene system is finally optimized by combining a probe group and adopting a plurality of amplification enzyme systems.

The invention discloses a composite amplification detection system of X chromosome DIP polymorphic loci and application thereof, the composite amplification detection system comprises 50 X chromosome DIP polymorphic loci, a sex identification locus Amelogenin and two Y chromosome DIP loci, 15 loci of the 50 X chromosome DIP polymorphic loci can form 6 linkage groups, and 15 loci of the 50 X chromosome DIP polymorphic loci can form 6 linkage groups. And the method has higher forensic medicine application efficiency. According to the multiplex amplification detection system disclosed by the invention, a miniaturized amplicon (70-205 bp) is designed, so that accurate typing analysis on a degraded detection material in forensic practice is effectively carried out. Meanwhile, the multiplex amplification detection system is simple, convenient, low in cost and easy to popularize, and has important significance on individual identification and complex genetic relationship identification of East Asian population.

The application discloses a Trichiurus lepturus gender-specific molecular marker and a primer pair thereof. The application first excavates a DNA fragment with stable difference existing in the genomes of male and female Trichiurus lepturus, i.e., the sequence of the molecular marker is shown as SEQ ID NO:1, which exists on the genetic sex X chromosome of the Trichiurus lepturus and is absent on the Y chromosome. The sequences of the primer pair are shown as SEQ ID NO:2 and 3. A genetic sex identification method of the Trichiurus lepturus is established, and the genetic sex of the Trichiurus lepturus can be accurately identified, which lays a foundation for related genetic basic research. The application has the characteristics of wide application range, simple operation, high accuracy and the like, and has important application value in Trichiurus lepturus gender proportion monitoring and resource investigation.