123 results about "Chinese population" patented technology

The invention provides a similarity analysis method and system for patients suffering from cardio-cerebral vascular diseases. The method comprises the following steps of 1 problem definition, wherein problem definition for the patients suffering from the cardio-cerebral vascular diseases is conduced; 2 data collection, wherein health care data of the patients suffering from the cardio-cerebral vascular diseases is collected; 3 data preprocessing, wherein data integration, data cleaning, missing value processing, feature deleting and abnormal point removing are included; 4 feature engineering, wherein feature construction, feature selection and feature processing are included; 5 patient clustering modeling; 6 diagnosis and treatment scheme recommendation. Accordingly, an effective similarity analysis model for the patients suffering from the cardio-cerebral vascular diseases is built, a clinician can obtain the similar populations of a give patient through the patient features and then recommends a personalized treatment plan to achieve the purpose of accurate medical treatment, population grouping based on similarity analysis can be well conducted on the patients suffering from the cardio-cerebral vascular diseases in the Chinese population, and pointed personalized rehabilitation therapy is conducted on different risk populations as early as possible.

The invention relates to a site combination for detecting tumor mutation burden (TMB) based on Panel sequencing, a processing procedure and a computing method, and belongs to the technical field of biomedicine. A method for detecting the tumor mutation burden comprises the steps that specific sites in a target detection area are optimized; high-frequency mutation sites related to tumor genesis anddevelopment in Chinese population are excluded, and synonymous mutations are included, so that TMB results based on Panel and full-exon sequencing are highly consistent, and a clinical predictive effect is more ideal in the real world.

The invention discloses a genetic diagnosis kit which detects the early-aging syndromes of adults and belongs to the biotechnical field. A method which diagnoses the early-aging syndromes of the adults includes the following steps of: (1) gathering the blood, body fluid or tissue samples of individuals to be tested and extracting the DNA; (2) taking the DNA as a template and carrying out PRC reaction to PRC primers which are designed in accordance with the mutation sites of WRN genes to obtain products of the PRC reaction; (3) carrying out sequencing analysis to the obtained PRC products and comparing the obtained sample sequences with normal genetic sequences to determine whether mutation exists; and (4) judging whether the individuals to be tested have the early-aging syndromes caused by the mutation of the WRN genes according to the results. The invention has the advantages of providing the mutation of the WRN genes among the Chinese population for the first time and showing the correlation between the mutated genes and WS symptoms. The detection method is simple and low in cost, with direct and reliable results, and can be applied to the large-scale screening and diagnosis of the 2806insA mutation of WRN genes of Werner syndrome.

The invention relates to Chinese population linkage analysis single nucleotide polymorphism (SNP) marker sets and a use method and application thereof. On the basis of hundreds of millions of Chinese Han population data results in the mass data of the International HapMap Project, medium-density and high-density SNP marker sets for linkage analysis are constructed and optimized, according to the statistical comparisons of multiple parameters such as the linkage disequilibrium, the polymorphism level, the typing success rate, the distribution position and density of genomes and the functional characteristic, and the multi-level selections and experimental verifications. The two marker sets separately contain 3000 and 6001 loci, wherein the 6001 loci contain the 3000 loci. The SNP sets aim at the Han genetic background in design, have high polymorphism in Chinese and can realize the aim of efficiently marking the Chinese family sample genomes. The selection of polymorphic loci is based on the neutral evolution principle, and all the loci are in a non-gene function region, thus the influence of evolution on the gene function can be avoided. Meanwhile, the characteristics that the marking loci have high typing detectability and can uniformly cover the whole genomes can ensure that the whole genomes can be screened completely and new pathogenic genes can be located and found. The two sets of SNP markers are used to customize probes or chips and perform whole-genome genotyping to family samples; and the typing data are used for linkage analysis, and the haplotyping and fine locating of the linkage candidate region are also adopted, thus the use method has more accurate locating result than the traditional method while the cost is lower and the speed is higher. The distribution and coverage of the 6001 SNP marker set in human chromosomes are shown in the appended drawings.

The invention discloses a large data cardiovascular disease risk monitoring system. According to the system, personal information (including age, sex, blood pressure, height, weight, obesity index and the like) of health examinations, physical examinations and hospital treatment, and test data of blood routine, blood biochemistry and myocardial enzymes are used for monitoring the cardiovascular disease risk. The invention belongs to the application of large data in the field of health care, and further belongs to the crossing technical field of large data and health care. The invention aims at providing a simple, easy, practical and accurate cardiovascular risk monitoring system. The current monitoring of the cardiovascular disease risk is achieved mostly by enquiring a small sample amount of data collected by a questionnaire method such as disease history, family history and major risk factors for the cardiovascular disease and through the data of blood sugar collected by an instrument, total cholesterol and the like. The monitoring is controlled and managed by medical institutions and doctors so that users can not carry out the monitoring of the cardiovascular disease risk by themselves. Due to the fact that epidemiological features of a cardiovascular disease spectrum and risk factors in Chinese population are significantly different from the epidemiological features in western developed countries. The existing risk assessment tools in Europe and America are not suitable for the Chinese population. With the help of a large data value extraction technology, the large data cardiovascular disease risk monitoring system can monitor the cardiovascular disease risk for users and doctors and provide hope for human to monitor the cardiovascular disease risk by themselves and conquer the cardiovascular disease.

The invention discloses a protein type solid beverage formula for reducing weight and meal replacement. The protein type solid beverage formula consists of the following raw materials in parts by weight: 2 parts of strawberry fruit powder, 5 parts of strawberry ferment powder, 5 parts of comprehensive fruit and vegetable ferment powder, 2 parts of konjac powder, 2 parts of collagen powder, 2 parts of oat dietary fibers, 2 parts of wheat oligopeptide, 20 parts of resistant dextrin, 1 part of Chinese wolfberry fruits, 2 parts of fructo-oligosaccharide, 2 parts of soybean protein powder, 2 parts of whey protein, 2 parts of inulin, 2 parts of coix seeds, 0.1 part of vitamin A, 0.1 part of vitamin D, 0.1 part of vitamin E, 0.1 part of vitamin B1, 0.1 part of vitamin B2, 0.1 part of vitamin B6, 0.2 part of vitamin C, 0.2 part of niacin, 0.2 part of folic acid, 0.3 part of calcium carbonate, 0.1 part of ferric pyrophosphate and 0.1 part of zinc gluconate. According to Diet Nutrient Reference Intake of Chinese Populations, requirements for vitamins, mineral convents and the like by low-calorie meal replacement foods are determined, the satiety time is prolonged, and the purpose of reducing weight is realized.

The invention relates to a detection method of nucleic acid, particularly discloses a whole base sequence typing of mitochondria and a determination method thereof, specifically 26 pairs of PCR primer for mitochondria sequencing and a typing method based on the primers. The 26 pairs of PCR primer which are adopted by the invention cover the total length of mitochondria genome, wherein, primer 15-1, 15-2, 15-3, 24-1 and 24-2 are designed renewedly based on Chinese population and has the pertinence of the typing of Chinese population. The amplified fragment which corresponds to the primer 24-1 is the minimum and equals to 420bp. The amplified fragment which corresponds to the primer 22 is the maximum and equals to 1162bp. The dimensions of all PCR fragments are moderate and favorable for PCR amplification. The 26 pairs of PCR primer of the invention is utilized in the laboratory of applicant for investigating the community information of Chinese nation, and the whole sequence information of Chinese population is submitted to GENEBANK databases. The result shows that the invention can be definitely applied in the field of individual recognitions, paternity testing and gene diagnosis of the field of forensic medicine, anthropology, genetics and disease.

The invention discloses a Chinese population deaf gene screening kit and an application thereof. The kit comprises PCR (polymerase chain reaction) amplification primers and extension primers as well as a PCR reaction agent, wherein the PCR amplification primers and extension primers are designed by taking mutation of lotus 35, lotus 109, lotuses 176-199, lotus 235, lotuses 299-300 of a GJB2 gene, lotus 1174, lotus 1226, lotus 1229, lotus 1975, lotus 2027, lotus 2162, lotus 2168 and lotus IVS7-2 of an SLC26A4 gene, lotus 1494, lotus 1555, lotus 3243 and lotuses 7444 of a mitochondrial DNA (deoxyribonucleic acid) gene as a detection object; and sequences of the primers are as shown in SEQ ID No.1-SEQ ID No.33; and the PCR reaction reagent comprises polymerase and buffer liquor. The kit disclosed by the invention can be utilized to obtain genotypes of 17 lotuses by one step through simple operation, so that cost is low; and accuracy of detection flux and detection results is greatly improved in comparison with that in the prior art, and therefore, the kit has very good clinical and large-scale application value.

The invention discloses a human STRtyper PCR enlarged fluoroscopic examination reagent kit with quick speed detecting, accuracy, good repeatability, good versatility, low price and practicality. The applicability of the reagent kit for Chinese is remarkable in particular. The serial products of the invention comprise the three following kits: (1) a STRtyper-20G kit with the largest STR gene locus of the global and most powerful recognizing ability; (2) a STRtyper-16GC kit which is more suitably used to build a criminal DNA database of Chinese population and identify the identity; (3) a STRtyper-10F / G kit with brand new STR gene locus. Each kit product comprises the component of 1.1 ml * 1 tube of STR PCR reaction mixture; 0.55 ml * 1 tube of STRtyper primer mixture; 120 microlitre * 1 tube of HS-Taq DNA polymerase; 0.3ml * 1 tube of STR control DNA; 50 microlitre * 1 tube of STRtyper allelomerphic gene mixture; 0.5 ml * 1 tube of internal standard; 30 microlitre* 1 tube of 310 spectrum correcting standard; 30 microlitre * 1 tube of 3100 spectrum correcting standard.

The invention discloses a kit for detecting folic acid utilization ability gene and a detection method of the kit, relating to the technical field of gene detection, wherein the kit for detecting folic acid utilization ability gene comprises (1) a PCR (polymerase chain reaction) reaction reagent including dNTP, 5* and 10*PCR buffer liquid, Mg<2+> ion, de-ionized water, FastTaq enzyme, SNaPshot Mix mixed liquid; (2), a mixture obtained by mixing 16 pairs of PCR primers according to a certain proportion; (3), a mixture obtained by mixing 16 extended primers according to a certain proportion; (4), SAP enzyme for purification, Exon I enzyme and buffer liquid matched with the enzymes; (5), positive and negative control DNA with single locus subjected to homozygous or heterozygous mutation; (6), an instruction manual. The method provided by the invention is simple, high in flux, high in effect and low in cost, and is suitable for detecting folic acid utilization ability gene for Chinese population.

The invention discloses a kit for synchronously detecting 12 mutation hotspots of the Chinese population phenylketonuria PAH (phenylalanine hydroxylase) gene. In the kit, 12 loca on the Chinese population PAH gene are used as detection objects; an amplification primer and an extension primer are respectively designed for the mutation type of each locus; each destination section is subjected to PCR amplification and mark extension at the same time; and the gene types of the 12 mutation hotspots are obtained at the same time through capillary electrophoresis analysis. The invention provides a phenylketonuria PAH gene mutation screening kit which is simple, has the advantages of high flux, high performance, low cost and high detection accuracy, is suitable for the Chinese people and suitable for the group screening of the Chinese population phenylketonuria.

The invention provides a method for obtaining biological age of an individual child based on an oral microbial community. The method comprises the steps of obtaining a sample containing oral microorganisms of the individual child; extracting DNAs of the oral microorganisms; and transforming DNA information into microbial community information, performing regressive analysis on the oral microbial community information and age by utilizing a random forest algorithm, building a regressive model, and obtaining the age of the individual child in Chinese population. According to the scheme provided by the method, the biological age of the individual child in the Chinese population can be accurately obtained; oral saliva or dental plaque samples can be non-invasively, simply and quickly obtained; and the age of the individual child is detected for a long term, so that a physiological health state of a host can be quickly judged, a clue can be provided for health monitoring, and early diagnosis speed of diseases can be increased.

Methods and compositions for identifying mutations and polymorphisms in mutant genes encoding gene product involved in insulin secretion, for example, hepatocyte nuclear factor-1∝, glucokinase, amylin and mitochondrial DNA are disclosed. Specifically, a microchip comprising a combination of at least two different mutant genes wherein each gene comprises at least one mutation indicative of a predisposition for type-2 diabetes in a member of a Chinese population is disclosed. A kit comprising the microchip, an isolated nucleic acid, primers and probes which are specifically used to screen or identify the mutations in genes of hepatocyte nuclear factor-1∝, glucokinase, amylin and mitochondrial DNA are also disclosed.

The invention discloses an establishing method of a primary generation humanized mammary cancer transplantation tumor model based on Chinese population. The method comprises the following steps: (1) acquiring a human mammary cancer tissue sample; (2) performing inoculation for the first time; (3) culturing a mouse of the first inoculation; (4) performing inoculation for the second time; (5) culturing a mouse of the second inoculation; (6) performing inoculation for the third time; and (7) culturing a mouse of the third inoculation. The invention also discloses the primary generation humanized mammary cancer transplantation tumor model based on the Chinese population, which is obtained by the method. The primary generation humanized mammary cancer transplantation tumor model based on the Chinese population can be used for screening anti-mammary cancer medicaments and used as a test animal in a pharmacodynamics research. The primary generation humanized mammary cancer transplantation tumor model disclosed by the invention overcomes the problem that the existing transplantation tumor model in the Chinese population cannot truly reflect biological characteristics of the mammary cancer in a human body. Moreover, compared with the establishment of a foreign primary generation humanized mammary cancer related model, the primary generation humanized mammary cancer transplantation tumor model disclosed by the invention is used for realizing long-term and stable stimulation on the growth of primary generation humanized mammary cancer transplantation tumor and improving the method for establishing the model.

The invention relates to a marker, a detection method and a detection system for homologous recombination deletion, and belongs to the technical field of medical molecular biology. According to the invention, the high-heterozygosity-rate SNP locus suitable for Chinese species is screened out by screening the gomAD heterozygosity rate and the real Chinese population locus heterozygosity rate, and an HRD scoring method is constructed on the basis of the high-heterozygosity-rate SNP locus. The marker for homologous recombination deletion provided by the invention can effectively score HRD, and the consistency of the calculation result and the WGS sequencing result is good.

The invention discloses a Chinese population spatial gridding method based on night lamplight data. The method comprises the following steps that 1) based on night lamplight data (Nighttime Light Time-series, NLT) acquired by an American defense meteorological satellite program line scanning sensor (Defense Meteorological Satellite Program's Operational Linescan System, DMSP_OLS), a night lamplight data processing flow is researched and developed, and a continuous and compatible night lamplight data set from 1992 to 2013 is acquired; 2) based on population census data and corrected NLT data, population spatialization models of 2000 and 2010 are established, each square kilometer is used as a grid, a Chinese population spatial distribution map is obtained, and the population number of eachgrid is expressed.

The invention relates to the molecular biology field, and discloses a specific oligonucleotide probe for detection of SNP loci of rs4244285681G/A and rs4986893636G/A of a CYP2C19 gene and a pair of specific primers for amplification of the CYP2C19 gene during detection of the above SNP loci. The probe can hybridize with different genotypes of the CYP2C19 gene specifically, and the genotypes comprise a CYP2C19*1 type, a CYP2C19*2 type and CYP2C19*3 type. The products can be used for detection of metabolic abilities for relevant medicines (such as plavix, omeprazole, voriconazole and the like) and of Chinese population, clinical medication schemes can be guided and adjusted, clinical personalized medication can be provided with a basis, the curative effects can be raised and the risks of toxic and side effects can be reduced.

The invention belongs to the fields of gene engineering and molecular genetics, and relates to a single-nucleotide polymorphism marker relevant to the occurrence of congenital megacolon of a Chinese population and application of the single-nucleotide polymorphism marker. The single-nucleotide polymorphism marker disclosed by the invention has specificity and sensibility for congenital megacolon of the Chinese population, can be used for preparing a reagent for diagnosing or screening congenital megacolon of infants (or children), effectively avoiding invasion detection and carrying out early screening and diagnosis before symptoms happen, and can also be used for judging disease sources through detecting the DNA of parents of sick children and evaluating disease risks for secondary fertility.

The invention discloses a kit for telomere length detection. The kit includes a telomere gene primer sequence and a reference gene primer sequence. The invention also discloses a biological age evaluation method, which comprises the following steps: (1) establishing a Chinese population telomere length detection calibration T/S database; (2) fitting algorithm according to the above telomere lengthcalibration T/S value-age model distribution diagram, and establishing a telomere length-biological age algorithm model system. With the application of the kit and by using the calibration T/S ratioas the telomere length evaluation standard, accurate detection and dynamic evaluation analysis of telomere length can be realized. With the application of the kit, scientific evaluation of biologicalage can be realized through a biological age database and a calculation model system. With the application of the kit for telomere length detection, the effect is stable, raw materials are cheap and easily-available, and experiment operation is simple and feasible.

The invention provides a synovial sarcoma cell line hss-005R, which is preserved in the China Center for Type Culture Collection (CCTCC) with the preservation number of CCTCC NO. C201911. The invention further provides an offspring cell line of the synovial sarcoma cell line hss-005R. A new human synovial sarcoma cell line is established, which is stable in character and can be stably passed for multiple generations. Under the premise of retaining main clinical biological characteristics, the established human synovial sarcoma cell line has the characteristics of high tumor formation rate, short incubation period, good uniformity and the like, enriches a synovial sarcoma cell bank, and can successfully establish a synovial sarcoma animal model, wherein the established animal model can be used for fundamental research and drug screening, so as to provide powerful scientific research data for the research developed on the basis of Chinese population genetic background, and provide new test material for test on sensibility and tolerance of a clinical anti-cancer drug of a new drug preclinical study in vivo experiment.

The invention discloses a folic acid demand genetic detection kit and an application thereof. The kit comprises PCR amplification primers, extension primers, and a PCR reagent, wherein the PCR amplification primers and the extension primers are designed by taking sixteen gene mutation sites as detection objects, and the sixteen gene mutation sites specifically are as follows: a CBS gene 699 C>T site, a DHFR gene c.594+59del19 site, a GST01 gene 428 C>A site, an MTHFD gene 1958 G>A site, an MTHFR gene 1298 A>C site, an MTHFD gene 677 C>T site, an MTR gene -186 T>G site, an MTR gene 905 G>A site, an MTR gene 2756 A>G site, an MTRR gene c.56+781 A>C site, an MTRR gene 66 A>G site, an NFE2L2 gene ins1+11108 C>T site, an NOS3 gene 894 G>T site, an RFC1 gene 80 G>A site, a TCN2 gene 776 C>G and a TYMS gene 1494del6; the sequences of the PCR amplification primers and the extension primers are shown in SEQ ID No. 1 to SEQ ID No. 48; and the PCR reagent comprises polymerase and a buffer solution. The invention provides a simple, high-throughput, high-effect and low-cost folic acid utilization capacity gene mutation screening method, which is suitable for Chinese populations.