32 results about "Allelic polymorphism" patented technology

The claimed invention provides for new sample preparation methods enabling direct sequencing of PCR products using pyrophosphate sequencing techniques. The PCR products may be specific regions of a genome. The techniques provided in this disclosure allows for SNP (single nucleotide polymorphism) detection, classification, and assessment of individual allelic polymorphisms in one individual or a population of individuals. The results may be used for diagnostic and treatment of patients as well as assessment of viral and bacterial population identification.

Several methods are described for assessing an individual's likelihood of developing or exhibiting a multifactorial trait. The methods include determining a plurality of genotypes for the individual at a plurality of biallelic polymorphic loci, using the genotypes to compute a score for the individual, and comparing the score to at least one threshold value.

Several methods are described for assessing an individual's likelihood of developing or exhibiting a multifactorial trait. The methods include determining a plurality of genotypes for the individual at a plurality of biallelic polymorphic loci, using the genotypes to compute a score for the individual, and comparing the score to at least one threshold value.

The claimed invention provides for new sample preparation methods enabling direct sequencing of PCR products using pyrophosphate sequencing techniques. The PCR products may be specific regions of a genome. The techniques provided in this disclosure allows for SNP (single nucleotide polymorphism) detection, classification, and assessment of individual allelic polymorphisms in one individual or a population of individuals. The results may be used for diagnostic and treatment of patients as well as assessment of viral and bacterial population identification.

The invention relates to a micro-satellite DNA molecular marker for cervine animals. The molecular markers can be used for identifying allelic polymorphism, identify same or related cervine animals, distinguish the cervine animals and research the genetic diversity of the species group. The molecular marker can also be used for the genetic and phenotype research utilizing a statistics method such as linkage analysis, association mapping, linkage imbalance. The information can be used for breeding and / or selecting plants.

The present invention provides methods of assessing an individual subject's risk of developing prostate cancer, comprising: a) analyzing a nucleic acid sample obtained from the subject and determining a genotype for the subject at a plurality of biallelic polymorphic loci, wherein each of said plurality has an associated allele and an unassociated allele, wherein the genotype is selected from the group consisting of homozygous for the associated allele, heterozygous, and homozygous for the unassociated allele; and b) calculating a cumulative relative risk (CRR) for the subject based on the genotype determined in step (a). A CRR of greater than 1.00 identifies a subject as having an increased risk of developing prostate cancer and also can identify a subject who is a candidate for early PSA screening, prostate biopsy and / or chemoprevention.

The invention relates to method of treating a disease or disorder (e.g., such as cancer) in a subject, comprising administering to the subject heterocyclic compounds and pharmaceutical preparations described herein, if the subject is determined to possess at least one G allele at single nucleotide polymorphism (SNP) rs6983267.

The invention relates to the technical field of a molecular marker, in particular to a calcutta hemp InDel molecular marker as well as a development method and application thereof. The molecular markers can be used for identifying the allele polymorphism, identifying identical or relevant calcutta hemp plants, distinguishing the calcutta hemp plants and studying the genetic diversity in populations. The molecular marker can also be used for using inheritance and phenotype study of a statistical method, such as linkage analysis, QTL positioning, genealogy confirmation, population genetic polymorphism study, association mapping and linkage disequilibrium; the information can be used for calcutta hemp plant propagation and / or selection.

The present invention provides a method of identifying a subject for whom a prostate biopsy is indicated, comprising: a) determining, from a nucleic acid sample obtained from the subject, a genotype for the subject at a plurality of biallelic polymorphic loci, wherein each of said plurality has an associated allele and an unassociated allele, wherein the genotype is selected from the group consisting of homozygous for the associated allele, heterozygous, and homozygous for the unassociated allele; b) calculating a genetic risk score (GRS) for the subject based on the genotype determined in step (a); and c) analyzing the GRS of the subject in combination with a prostate specific antigen (PSA) level of the subject to identify a prostate cancer detection rate for the subject, whereby a prostate cancer detection rate of greater than or equal to a reference value identifies the subject as a subject for whom a prostate biopsy is indicated.

Simple sequence repeat (SSR) markers identified in Jatropha curcas and useful for the molecular genotyping of plants. are described. These markers may be used for identifying allele polymorphisms, identifying identical or related plants, differentiating plants and studying genetic diversity in a population. The markers may also be used in genetic and phenotype studies using statistical methods, for example, linkage analysis, association mapping, linkage disequilibrium and the like. The information may be used for breeding and / or selection of plants.

The present invention provides methods of assessing an individual subject's risk of developing prostate cancer, comprising: a) analyzing a nucleic acid sample obtained from the subject and determining a genotype for the subject at a plurality of biallelic polymorphic loci, wherein each of said plurality has an associated allele and an unassociated allele, wherein the genotype is selected from the group consisting of homozygous for the associated allele, heterozygous, and homozygous for the unassociated allele; and b) calculating a cumulative relative risk (CRR) for the subject based on the genotype determined in step (a). A CRR of greater than 1.00 identifies a subject as having an increased risk of developing prostate cancer and also can identify a subject who is a candidate for early PSA screening, prostate biopsy and / or chemoprevention.

The invention discloses a method for identifying Shida tea varieties through an SSR fingerprint spectrum. Specific SSR locus in tea tree whole genome and conserved sequences on the two sides are as shown in SEQ ID NO: 1 to SEQ ID NO: 3. The method comprises the following steps: taking four Shida tea good varieties comprising Shida tea I, Shida tea II, Shida tea VI and Shida tea yellow variety, selecting 450 SSR primer pairs in the tea tree whole genome to perform polymorphic screening, ensuing that identification flow mainly comprises tea tree total DNA extraction, primer design, PCR amplification and allele polymorphic statistics, and finally determining 1 primer pair as core primer pairs for specie identification. The method effectively separates four Shida tea varieties from one another, is beneficial to protection and promotion of the Shida tea varieties, and meanwhile provides a rapid and accurate identification method for various tea which are asserted to take fresh leaves of Shida tea as raw materials on the market.

The invention discloses a reagent kit and a method for quickly and efficiently detecting the polymorphism of drug-induced skin adverse reaction related genes, and belongs to the technical field of gene detection. The polymorphism of the related genes includes the polymorphism of HLA-B*1502 and HLA-B*5801 genes. The reagent kit comprises sample treatment reagents, PCR (polymerase chain reaction) 8joint management individual-portion premixed and separately packaged gene detection reagents, positive reference substances and a negative reference substance. The sample treatment reagents are used for treating human whole-blood samples, the positive reference substances are gene plasmid DNA (deoxyribonucleic acid) and internal reference plasma DNA, and the negative reference substance is ultrapure water without target genes or internal reference genes. The reagent kit and the method have the advantages that specific amplification and real-time detection and analysis are carried out by specific amplification primer pairs and MGB-NFQ (minor groove binder-non-fluorescent quencher) fluorescent probes which are designed according to target gene sequences, accordingly, the detection specificity and sensitivity can be enhanced, and variation of desired genes can be accurately, specifically and sensitively detected from the polymorphism of thousands of allelic genes of HLA-B.

The invention brings forward a method for PCR real time quantitative detection of hematopoietic chimeras and designing of genetic marker primers of the hematopoietic chimeras by using the fluorescent dye SYBR green. The PCR detection method comprises the following steps: collecting a specimen; selecting designed primers of polymorphic genetic markers and probes; carrying out real time quantitative PCR detection on a hematopoietic chimera; artificially synthesizing 12 hematopoietic chimeras of different diluted concentration; carrying out statistical analysis; wherein, selection criterion for the designed primers of the genetic markers is that the genetic markers contain at least more than two continuous allelic polymorphism with different bases and show high heterozygosity in a general population. The invention introduces 12 specific polymorphic genetic markers applicable to real time fluorescence quantitative detection of hematopoietic chimeras; moreover, a melting curve is used to verify specificity of PCR products so as to compensate for non-specificity of inclusion of double-chain DNA in the fluorescent dye SYBR green. The real time quantitative PCR detection method provided in the invention has the advantages of low cost, a long quality guarantee period and good sensitivity and is a fast, simple and reliable detection method for hematopoietic chimeras.

The invention relates to the field of molecular biology, in particular to sorbus pohuashanensis EST-SSR markers, primers thereof and application. The primer pairs of the molecular markers can be used for identifying allele polymorphism and same or relevant plants, distinguishing the plants and researching the genetic diversity of populations. The molecular markers can be also used for heredity and phenotype research by adopting a statistical method, for example, linkage analysis, QTL positioning, genealogical confirmation, genetic polymorphism research of populations, and chain imbalance. The information can be used for identification of specific traits of plants and / or construction of new varieties of molecular identity cards.

The present invention provides methods for determining an individual's risk of developing Alzheimer's disease. The methods include collecting a biological sample from an individual; genotyping a nucleic acid in the biological sample for a genetic polymorphism in a RAB10 gene or a SAR1A gene or both the RAB10 gene and the SAR1A gene, and determining from the genotyping a decreased risk of developing Alzheimer's disease when the genetic polymorphism in the RAB10 gene or the SAR1A gene or both the RAB10 gene and the SAR1A gene is present. The methods may also include determining the presence of SNP rs 142787485 which comprises an adenine (A) to guanine (G) change in the 3′ untranslated region of the RAB 10 gene, and / or determining the presence of SNP rs7653 which comprises a cytosine (C) to thymine (T) change in the 3′ untranslated region of the SAR1A gene.

The invention provides InDel markers for identifying purple tea tree varieties, and a combination and application of the InDel markers. The InDel markers include the InDel marker 1 and the InDel marker 2. InDel fingerprints are utilized for identifying four purple tea tree varieties including the ziyan variety, the zixian variety, the zihong variety and the zijuan variety, and 30 pairs of InDel primers are selected from whole tea tree genomes to be subjected to polymorphic screening. An identification process mainly includes the steps of: extracting total DNA of tea trees, designing the primers, conducting PCR amplification, and carrying out allele polymorphism statistics; and finally, two pairs of InDel primers (SEQ ID NO:5-8) are determined to serve as core primers for variety identification. By adopting the InDel markers, the four purple tea tree varieties can be effectively and completely distinguished, and therefore, not only can protection and popularization of the purple tea tree varieties be promoted, but also a simple, rapid, accurate and efficient identification method is provided for the four purple tea varieties which are easy to confuse on the market.

The invention discloses a kit for detecting oxidation resistance genotype of human skin and a methodthereof. The invention adopts multiple PCR amplification and electrophoresis methods to analyze and identify six allele polymorphism (SNP) sites in four genes (NQ01, SOD2, NFE2L2 and GPX1). The method comprises the following steps: a) collecting exfoliated cells in the oral cavity of a testee, and storing the collected exfoliated cells in a collection card or extracting DNA nucleic acid from a blood sample; b) adding a saliva collection card sample or an extracted DNA sample of a testee into a reaction system, and carrying out PCR amplification; c) running an amplification program; and d) carrying out electrophoretic analysis on the amplification product, and interpreting according to a peak pattern graph. According to the invention, SNP of a plurality of genes related to a testee can be synchronously detected, and simplicity, high efficiency and specificity of detection are realized. Through the analysis, reference information of the skin antioxidant capacity of the testee can be provided for the testee.

The invention discloses a kit for detecting human fitness potential genotypes and a method thereof. The allele polymorphism (SNP), namely CREB1, ACSL1 and MTC1, of three genes is analyzed and identified by adopting a multiple PCR amplification and electrophoresis method. The method comprises the following steps: a) collecting exfoliated cells in the oral cavity of a testee and storing the collected exfoliated cells in a collection card or performing DNA nucleic acid extraction on a blood sample; b) adding a saliva collection card sample or an extracted DNA sample of a testee into a reaction system, and carrying out PCR amplification; c) running an amplification program; and d) carrying out electrophoretic analysis on the amplification product, and interpreting according to a peak pattern graph. According to the invention, SNP of a plurality of genes related to a testee can be synchronously detected, and simplicity, high efficiency and specificity of detection are realized. Through the analysis, a reference is provided for the testee to adapt to which fitness mode.

The invention discloses EST-SSR markers and primers used for distinguishing different ecotypes of cloves. The EST-SSR marker for distinguishing eco-type cloves disclosed by the present invention is obtained by PCR amplification using a primer set composed of 50 single-stranded DNAs shown in sequence 1-50 in the sequence listing. The primer sets of the present invention can be used to identify allelic polymorphisms, identify identical or related plants, differentiate plants and study genetic diversity in populations. The primer set and EST‑SSR marker of the present invention have good application in Syringa, can be used to distinguish different ecotypes of Syringa, and provide convenience for molecular marker-assisted breeding of Syringa and its close relatives.

The invention relates to a method for detecting behcet diseases. The method comprises the steps that data of 15 behcet disease HLA allelic gene polymorphism types is collected, a behcet disease HLA allelic gene polymorphism database is established, according to the 15 behcet disease HLA allelic gene polymorphism types in the behcet disease HLA allelic gene polymorphism database, 15 behcet diseaseHLA typing specific primers are designed, after a to-be-detected DNA sample is extracted, the behcet disease HLA typing specific primers and the to-be-detected DNA sample are added into a sequencing chip, amplification and sequencing are performed on the to-be-detected DNA sample, the HLA type of the to-be-detected DNA sample in a sequencing result is compared with the 15 behcet disease HLA allelic gene polymorphism types in the database, a comparison result is judged by a physician, and the auxiliary diagnosis of the behcet diseases is achieved.

The invention discloses a kit for detecting a human optimal partner potential genotype and a method thereof. The method adopts multiple PCR amplification and electrophoresis methods to analyze and identify allele polymorphisms (SNP) of seven genes: SNAP25, CLOCK, OXTR, DRD2, CADM2, FOXP2 and KATNAL2. The method comprises the following steps: a) collecting exfoliated cells in the oral cavity of a testee and storing the collected exfoliated cells in a collection card or performing DNA nucleic acid extraction on a blood sample; b) adding a saliva collection card sample or an extracted DNA sample of a testee into a reaction system, and carrying out PCR amplification; c) running an amplification program; and d) carrying out electrophoretic analysis on the amplification product, and interpreting according to a peak pattern graph. According to the invention, SNP of a plurality of genes related to a testee can be synchronously detected, and simplicity, high efficiency and specificity of detection are realized. Through the analysis, a reference is provided for whether the testee has the potential of the best partner or not.

The present invention describes microsatellite DNA molecular markers for cervids. These molecular markers can be used to identify allelic polymorphisms, identify identical or related cervids, differentiate cervids and study genetic diversity in populations. Molecular markers can also be used in genetic and phenotypic studies using statistical methods, eg, linkage analysis, binding mapping, linkage disequilibrium, etc. Said information can be used for propagation and / or selection of plants.

The invention discloses a kit for detecting individual skin genes and a use method of the kit. Allele polymorphisms (SNPs) of four genes, namely MMP1, MMP3, MMP9 and AQP3 are analyzed and identified by adopting a multiple PCR amplification and electrophoresis method. The method comprises the following steps: a) collecting cast-off cells in the oral cavity of a testee and storing the cast-off cells in a collection card or performing DNA nucleic acid extraction on a blood sample; b) adding a saliva collection card sample or an extracted DNA sample of the testee into a reaction system, and carrying out PCR amplification; c) running an amplification program; and d) carrying out electrophoretic analysis on the amplification product, and carrying out interpretation according to a peak pattern graph. According to the invention, the SNP of a plurality of genes related to the testee can be synchronously detected, and simplicity, high efficiency and specificity of detection are realized; and the reference is provided for the skin type of the testee through the analysis.

The invention relates to the technical field of a molecular marker, in particular to a calcutta hemp InDel molecular marker as well as a development method and application thereof. The molecular markers can be used for identifying the allele polymorphism, identifying identical or relevant calcutta hemp plants, distinguishing the calcutta hemp plants and studying the genetic diversity in populations. The molecular marker can also be used for using inheritance and phenotype study of a statistical method, such as linkage analysis, QTL positioning, genealogy confirmation, population genetic polymorphism study, association mapping and linkage disequilibrium; the information can be used for calcutta hemp plant propagation and / or selection.

The invention discloses a kit and a method for detecting human scientific temperament potential genotypes. The kit and the method adopt multiple PCR amplification and electrophoresis methods to analyze and identify allele polymorphism (SNP) of five genes: NRXN1, PCDH18, TCERG1L, COX10 and CADM2. The method comprises the following steps: a) collecting oral exfoliated cells of a testee and storing the oral exfoliated cells in an acquisition card or performing DNA nucleic acid extraction on a blood sample; b) adding a saliva acquisition card sample of the testee or an extracted DNA sample into a reaction system, and performing PCR amplification; c) running an amplification program; and d) performing electrophoretic analysis on an amplification product, and performing interpretation according to a peak pattern. The kit and the method can synchronously detect the SNP of a plurality of related genes of the testee, and simplicity, high efficiency and specificity of detection are realized. Through the analysis, a reference is provided for whether the testee has scientific temperament potential or not.

The invention discloses an EST-SSR mark for distinguishing different ecotypes of cloves and applied primers. The EST-SSR mark for distinguishing different ecotypes of cloves is obtained by conductingPCR amplification on a primer set composed of 50 single-chain DNAs shown in sequences 1-50 in a sequence table. The primer set can be applied to identification of allele polymorphism, identification of identical or related plants, plant distinguishing and research on the genetic diversity in the population. The primer set and the EST-SSR mark can be well applied to the clove category, and can be applied to distinguishing of different ecotypes of cloves in the clove category and provide convenience for development of auxiliary cultivation of molecular markers of the cloves and the sibling species of the cloves.

The present invention provides a method of identifying a subject for whom a prostate biopsy is indicated, comprising: a) determining, from a nucleic acid sample obtained from the subject, a genotype for the subject at a plurality of biallelic polymorphic loci, wherein each of said plurality has an associated allele and an unassociated allele, wherein the genotype is selected from the group consisting of homozygous for the associated allele, heterozygous, and homozygous for the unassociated allele; b) calculating a genetic risk score (GRS) for the subject based on the genotype determined in step (a); and c) analyzing the GRS of the subject in combination with a prostate specific antigen (PSA) level of the subject to identify a prostate cancer detection rate for the subject, whereby a prostate cancer detection rate of greater than or equal to a reference value identifies the subject as a subject for whom a prostate biopsy is indicated.

The use of markers that participate in inflammatory processes and are associated cytokines in the diagnosis, treatment or prophylaxis of diseases is disclosed. Specifically, cytokines are used to diagnose or treat non-neoplastic or non-leukaemic diseases such as autoimmune diseases or neurodegenerative disorders by the process of taking a DNA bearing sample from a subject animal and analysing the sample to determine the allelic variants present at one or more of the SNP loci at positions −1082, −819 and −592 of the gene encoding IL-10. A method of treating Alzheimer's disease, autoimmune diseases or other neurodegenerative disorders is disclosed by modulating, that is augmenting or decreasing, the function of a gene having one of the allelic polymorphisms of IL-10. IL-6 inhibitors and IL-10 promoters can be used in the manufacture of a medicament for the treatment of prophylaxis of Alzheimer's disease.

The invention discloses a kit and a method for detecting human pressure sensitivity genotypes. The kit and the method adopt multiple PCR amplification and electrophoresis methods to analyze and identify allele polymorphism (SNP) of five genes: MAOA, PPP1R1B, COX10, CADM2 and COMT. The method comprises the following steps: a) collecting oral cast-off cells of a testee and storing the oral cast-off cells in a collection card or performing DNA nucleic acid extraction on a blood sample; b) adding a saliva collection card sample or an extracted DNA sample of the testee into a reaction system, and performing PCR amplification; c) running an amplification program; d) performing electrophoresis analysis on an amplification product, and performing interpretation according to a peak pattern graph. Results are analyzed and interpreted. The kit and the method can synchronously detect the SNP of a plurality of related genes of the testee, and simplicity, high efficiency and specificity of detection are realized. Reference is provided for the pressure resistance of the testee through the analysis.