101 results about "Autosome" patented technology

The invention discloses a compound amplification kit for InDel genetic polymorphic sites of human euchromosome and Y chromosome and application thereof. The kit comprises 47 pairs of euchromosome InDel site loca, 2 pairs of Y chromosome InDel site loca and a pair of specific amplification primers of a sex determination gene. The kit can be used for human individual recognition, paternity identification and degraded detection material recognition. The kit comprises 49 InDel sites which are relatively balanced in types and one sex determination gene. By adopting a six-colored STR fluorescence detection system, the kit is higher than the disclosed legal medical InDel detection kit. The kit disclosed by the invention is suitable for detecting Chinese groups. An amplification system of 50 sites is short in amplification fragment, and the amplicon is controlled at 200bp, so that the system is suitable for InDel typing of high degraded detection material; the amplification system improves the detection numbers of sites in the degraded detection material; the two Y-InDel sites introduced into the system plays an auxiliary judging role on the sex determination gene Amelogenin.

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 multiplex amplification detection kit for detecting 60 loca of autosomes and Y-chromosomes simultaneously. The 60 loca are amplified in a multiplex manner through a polymerase chain reaction, and amplification products of the loca are detected by using a gene sequencer. The kit can be used for detecting the 60 loca of the autosomes and the Y-chromosomes simultaneously, which is a case that most STR loca can be detected by a primary reaction with a capillary electrophoresis method at present, and databases can be built for autosome STR and Y-chromosome STR simultaneously by the primary reaction. The kit has strong adaption to biomaterials, namely, one kit can be used for amplifying various biomaterial samples, wherein different biomaterial samples comprise a male genome DNA extracted by a Chelex100 method, a magnetic bead extracting method or an organic extracting method and male blood or oral cells of human, which is/are collected by any one carrier of filterpaper, an FTA card, a cotton bud, gauze and the like. The kit has higher amplification specificity and higher thermal tolerance.

The invention relates to a composite amplification kit of 47 human autosome and Y chromosome loci and an application thereof. The invention provides a composite amplification system of the 47 human autosome and Y chromosome loci, which comprises specific primers for amplifying the 47 loci, wherein the 47 loci comprise 19 autosome STR loci, 27 Y chromosome STR loci and 1 sex recognition locus. The47 pairs of specific primers are subjected to grouping fluorescence labeling by utilizing a six-color fluorescence labeling technology, and the simultaneous high-efficiency, specific and sensitive amplification of the 47 human autosome and Y chromosome loci is achieved through the design and optimization of primer sequences and working concentrations. The detection result of the composite amplification system has high individual identification capability and good data compatibility, and can be used for paternity identification and individual identification in practice, so that the detection cost of human DNA typing is effectively reduced, and the detection working efficiency is improved.

The invention belongs to the field of forensic medicine, and discloses a microhaplotype genetic marker for forensic detection and a kit thereof. The invention provides a genetic marker combination consisting of 21 microhaplotypes located on autosomal chromosomes. The genetic marker combination can be effectively applied to forensic detection. Compared with the traditional detection kit, the microhaplotype genetic marker for forensic detection and the kit thereof provided by the invention have high sensitivity, accurate detection result and high applicability in individual identification, can realize individual identification of human biological samples in a relatively short period of time, and wins valuable time for solving of forensic cases.

The invention discloses an individual recognition system based on next generation sequencing and a kit and application of the kit. The individual recognition system comprises a primer sequence designed at 112 STR sites and 318 SNP sites, wherein the 112 STR sites include 53 autosome STR sites, 23 X chromosome STR sites, 35 Y chromosome STR sites and a gender determination site AMEL; the 318 SNP sites include 186 autosome SNP sites, 69 X chromosome SNP sites, 57 Y chromosome SNP sites and 6 blood group phenotype related SNP sites. The individual recognition system can obtain second-generation or three-generation genetic marker information on autosome, X chromosome and Y chromosome at the same time only through once amplification; thus, operation steps are reduced, experiment time is shortened, and the individual recognition system is suitable for DNA genotype detection of people in different countries and different areas all over the world.

The invention discloses a fluorescence labeling combination amplification reagent kit capable of synchronously amplifying autosome gene loca and Y chromosome STR gene loca of people and application of the fluorescence labeling combination amplification reagent kit. The reagent kit can simultaneously amplify 34 gene loca to the maximum in a single tube reaction in a combination mode, wherein 34 gene loca include 15 autosome gene loca, 18 Y chromosome STR gene loca and Amelogenin. The six-color fluorescence technology is adopted, a unique gene locus arrangement mode is matched, the 34 gene loca are divided into five groups, all the groups of STR gene loca are labeled by different fluorescence labels, and in addition, the reagent kit has very high detection material adaptability. By means of the reagent kit, the autosome gene loca and the Y chromosome STR gene loca are detected simultaneously, the amplification template amount can be reduced, the detection time can be shortened, and meanwhile the efficiency of excluding and determining criminal suspects can be improved.

The invention relates to a high-throughput sequencing-based detection kit for SNP loci used for detecting 273 SNP loci (234 SNP loci are located on an autosome, 9 SNP loci are located on a Y chromosome and 30 SNP loci are located on an X chromosome). The detection kit comprises a primer composition formed by primer pairs of 273 SNP loci. The sequence of the primer composition is as shown in SEQ ID NO:1 to SEQ ID NO:546. The invention further provides a detection method using the kit, and an application of the kit in the field of judicial identification of triplet paternity test, diad paternity test, grandparent and grandchild test, siblings identification and individual recognition. Parallel sequencing is carried out on the SNP loci by adopting a high-throughput sequencing technology, and variation information of a flanking sequence can be obtained while locus information is read; sequence information of 384 samples on the 273 SNP loci can be obtained through single sequencing, so that the DNA sample capacity is reduced and the detection time is shortened; and fragment libraries are concentrated below 200bp and are suitable for forensic degradable materials.

The invention relates to a mitochondria SNP (single nucleotide polymorphism) fluorescence-labeling multiple amplification kit capable of detecting 61 SNP loci at the same time. According to a mitochondria phylogenetic tree, based on genetic characteristics of Chinese populatio, 61 SNP loci which are high in polymorphism, low in mutation rate and strong in parting capacity are selected, wherein the 61 SNP lotuses comprise 54 loci in a coding region, 7 loci in a control region; the kit can be used for detecting the 61 SNP loci by virtue of specific primers. The kit which is used as a mitochondria detecting system is capable of carrying out amplification in three tubes at the same time and performing electrophoresis at the same time, so that haplotype diversity reaches 98.6%, and therefore, the mitochondria SNP fluorescence-labeling multiple amplification kit can be used as a kit for identifying the same maternal line, after autosome STR and Y chromosome STR.

The invention discloses a target sequence suitable for transgene fixed point insertion of silkworm W-chromosome and a locus and application thereof. The nucleotide sequence of the target sequence is shown in SEQ ID NO.19 and is a specific sequence in silkworm W-chromosome, and Z-chromosome and autosome do not comprise the sequence; the target sequence inserted by a foreign gene can be expressed normally; therefore, the target sequence can be used as the fixed point insertion locus of the foreign gene in the silkworm W-chromosome so as to prepare W-chromosome chain transgenic silkworms, and has significance to identification of male and female silkworms.

The invention aims at providing a compound typing system used for personal identification, which is used for personal identification, especially the identification for relative relations such as grandparents and grandchild, uncles and nephews, or half sibs, and has the powerful typing efficiency and wide application range. On one aspect, the invention provides a set of genetic marker assembly, and the genetic marker assembly comprises 482 SNP sites positioned on the autosome; on another aspect, the invention provides a typing kit, and the typing kit comprises a reagent for typing the 482 SNP sites in the genetic marker assembly provided by the invention; on still another aspect, the invention provides an individual genotype identity card, and the individual genotype identity card comprises a chip, the genotype information of the genetic marker sites of the individuals is stored in the chip, and the genetic marker sites refer to the 482 SNP sites in the genetic marker assembly provided by the invention.

The invention provides a method and system for individual recognition and paternity identification of an unknown sample. The method includes: extracting the DNA of the unknown sample; acquiring the typing result of 17 loci contained by the DNA, i.e. 14 autosome STR loci, 2 Y-chromosome loci, and the sex determination locus Amelogenin, with the STR loci being D6S1043, D21S11, D7S820, CSF1PO, D2S1338, D3S1358, D13S317, D8S1179, D16S539, Penta E, D5S818, vWA, D18S51 and FGA, the Y-STR locus being DYS448, and the Y-chromosome insertion/deletion site being M134; and carrying out individual recognition and paternity identification according to the genotypes of the 17 loci of the unknown sample. The invention also provides the system for individual recognition and paternity identification of the unknown sample. The scheme involved in the invention can realize simultaneous detection of autosome STR loci and Y-chromosome loci, and also can shorten the detection time, thus improving the efficiency of individual recognition.

The invention discloses a manufacturing method for marrow chromosome G band, and the method comprises adding mankind lymphoma cell cultures into a marrow medium and adding a certain amount of ethidium bromide when cell culture is terminated. The effects comprise that (1) division phases are relatively more, time is saved and labor is saved; (2) the length of chromosome in division phases is relatively long, and the band is relatively clear; (3) the dispersity is relatively good and the analysis is facilitated; and (4) the detection rate of abnormal chromosome is relatively high and the diagnosis result is relatively reliable. The G band manufactured by employing the method has the advantages of saving time and saving labor when applied to marrowchromosome karyotyping, is relatively high in accuracy and has relatively wide application prospect.

The invention discloses a genetic marker combination for human individual recognition and/or paternity identification and a detection method thereof. By conducting whole-genome SNPs unbiased scanningon multiple races, a SNPs site combination widely applicable to the multiple races is screened, and 116 autosome SNPs sites which come from 37 groups in different regions in the whole world, have thehypermorph allel frequency and low difference and achieve independent inheritance and 12 X chromosome SNPs sites which come from 37 groups in different regions in the whole world, have the hypermorphallel frequency and low difference and achieve independent inheritance are screened from 25,580,678 SNPs sites in a genome-wide scale. Compared with an existing commercial kit, the SNPs site combination has higher and wider multiracial adaptation, the cumulative individual recognition probability and the cumulative probability of exclusion are both significantly superior to those of the commercialkit, the detection result is more accurate, and a great application prospect is achieved.

The invention provides a multiplex amplification kit containing 33 loca of a human genome. The multiplex amplification kit contains 18 A-STR loca which are recommended by a DNA database of the Ministry of Public Security to be used and also contains 14 Y-STR loca which are low in mutation rate and high in polymorphism and the Amelogenin locus, simultaneous amplification and detection on the 33 loca through a single tube is achieved, and synchronous amplification and detection on autosomes and Y chromosomes are achieved in a single experiment. The kit can directly amplify blood stains and saliva stains which take filter paper and an FTA filter as carriers without needing the template extraction and purification process and also can be suitable for DNA samples extracted through different extraction methods. The kit can be used for rapid investigation of a case, can improve the detection efficiency and increase the case investigation speed and especially has the significant effect on male sample trace detection in a raping case and father-child paternity test detection. The kit is wide in application range, good in compatibility and completely compatible with an existing legal medical expert DNA detection system.

The invention provides a genetic risk early-warning method for auxiliary reproduction sperm supplying strategy and a system. According to the method and the system, an autosome recessive genetic disease reproduction genetic risk of a to-be-pregnant women is evaluated and predicted, and a sperm donation volunteer who has relatively high gene pairing degree and low genetic disease risk as a to-be-selected object. Quantification and automation for risk evaluation of a reproduction autosome recessive genetic disease are comprehensively realized. The method and the system have advantages of greatlyreducing manpower cost and time cost, realizing high reasonability, and greatly improving analysis accuracy.

The invention provides a primer for detecting the X and Y sperm separation purity. Aiming at a sex-determining gene Sry on a bull Y chromosome, the primer is designed through the PCR mismatching technology. The fragment size can be amplified by 295 bp through the primer, in order to prevent false positive from appearing, a pair of internal control primers C34 is designed through the invention according to a bull autosome 3 reported sequence, the fragment size is amplified by 208bp, dual PCR amplification is performed to single bull sperm through the two pairs of primers, and then the final evaluation is performed to the sperm separation purity according to the statistical analysis to the detection result. The invention provides the technology used for identifying the bull X and Y sperm separation purity with low cost and simple, rapid, and accurate operation, and provides reliable technical support for the popularization and the application of the subsequent sexing semen and the optimization of a sperm separation method.

A method for distinguishing individuals in mixed seminal stain by single sperm capture and mitochondrial DNA typing mainly solves the technical problems in the prior art that DNA content can not meet the requirements of routine mixed seminal stain test and that complete individual genetic information can not be provided. The method is realized by the steps of single sperm capture, DNA extraction from the single sperms, nested amplification on mt DNA HV I zone, DNA sequence analysis of the products from two amplifications and sperm concentration and autosome STR detection. According to the invention, single sperm mitochondrial DNA with personal characteristics is employed as a detection index, the mixed semen from different individuals is distinguished according to individual semen, and then nuclear DNA detection is carried out, thereby successfully solving the problem of recognizing individuals in mixed sample with components from different individuals. The characteristic of abundant mitochondrial DNA content of single sperm is utilized to meet the requirements of mitochondrial DNA detection by PCR technology; and a plurality of sperms with mitochondrial DNA of the same type are collected for realizing nuclear DNA detection, in order to achieve the purpose of individual identification.

The invention belongs to the technical field of biology and particularly relates to a KASP-based rat genetic quality monitoring SNP marker typing method and a kit. There are 48 SNP loci which can be detected, wherein the loci cover 20 autosomes and X sex chromosomes of a rat, at least two SNP loci are selected on each chromosome, and at least 5 SNP loci are used for distinguishing every two inbredrat strains. The method also comprises a KASP primer set and a KASP premix which are designed for a rat SNP marker. According to the method, common inbred rat strains can be effectively and rapidly distinguished, genetic homozygosity or genetic contamination of inbred rats can be effectively detected, genetic diversity of rats in a closed colony can be rapidly detected, and the rats unknown in source can be traced. The method has the advantages of high intuition, accuracy and flexibility and low cost and is suitable for automation and batch detection.

The invention relates to the field of disease-related mutant genes and discloses a novel gene mutation site causing congenital membranous cataract, a detection method and application. The invention specifically relates to gene mutation c.388C > T (p.R130C) of LIM2 and a genetic mode of dominant inheritance of autosomes of the gene discovered for the first time, and discloses a congenital membranous cataract virulence gene LIM2 mutation detection kit at the same time. The kit disclosed by the invention is used for detecting whether a patient has LIM2 gene c.388C > T mutation or not; therefore,an effective way for congenital cataract gene diagnosis, prenatal gene screening and genetic counseling is provided. The kit is beneficial to clinical prenatal diagnosis screening and common screeningof newborn LIM2 gene mutation, early surgery and training rehabilitation intervention are carried out on diagnosis congenital membranous cataract children, and irreversible lifelong hypopsia is reduced; and a basis is provided for screening after preventive fertility.

The invention discloses a fluorescence labeled composite amplification kit capable of simultaneously amplifying human autosome and Y-chromosome STR (short tandem repeat) loci and application thereof.The kit is capable of simultaneously detecting 18 A-STR and 20 Y-STR and gender (Amel) loci and realizing simultaneous construction of two libraries of A-STR and Y-STR and can be applied to individualrecognition, paternity identification, family screening, family tree construction and the like as well as rapid screening of cases. The effects of shortening the detection time and simultaneously improving the efficiency of eliminating and determining criminal suspects are achieved. The 20 Y-STR loci have excellent regional and family name directionality for investigation of the cases, and irrelevant families can be eliminated to the greatest degree. The kit disclosed by the invention is capable of detecting trace male DNA under the background of a large amount of female DNA samples, and is astrong weapon of mixed stain detectors for detecting forcible rape crimes and the like. Moreover, when parent-child paternity identification is detected, since the Y-STR data are included, Y-STR experimental analysis does not need to be independently performed.

The invention discloses a multiplex amplification kit for simultaneously detecting autosome and Y chromosome STR loci. The kit contains 36 groups of specific amplification primer pairs corresponding to 38 loci, and comprises sequences SEQ ID NO. 1-74. A-STR data and Y-STR data can be simultaneously analyzed and used for rapid screening of cases, so that the detection time is shortened, and meanwhile the efficiency of excluding and determining criminal suspects is improved.

The invention claims a linked autosomal short tandem repeat (STR) typing system based on a high-throughput sequencing technology and a kit, and relates to the technical field of nucleic acid in-vitrodetection. The STR typing system includes PCR primers for amplification of 61, 121 or 179 linked autosomal STR loci, and the kit includes a PCR primer combination, an Index linker sequence, an IGT-EM707 polymerase mixture, an amplification buffer enhancing agent NB, a YF buffer liquid B and a library building reagent. The STR typing system and kit provided by the invention can realize single-tubeamplification of the 61, 121 or 179 linked autosomal STR loci, have good balance, high sensitivity, good specificity, and accurate typing results, and can be used to identify complex genetic relationships of different genetic relationships at a same level.