511 results about "Polyphenism" patented technology

A method and kit for predicting increased risk of sight-threatening diabetic retinopathy which includes isolating genomic DNA from a sample from a diabetic patient. The genetic polymorphism pattern for the genes IL-1A, IL-1B and IL-1RN is then identified in the DNA. The identified pattern is compared with control patterns of known polymorphisms, and patients expressing a genetic polymorphism pattern associated with increased risk of sight-threatening diabetic retinopathy are identified.

The present invention relates to genetic analysis and evaluation utilizing copy-number variants or polymorphisms. The methods utilize array comparative genomic hybridization and PCR assays to identify the significance of copy number variations in a human, non-human animal, and plant subject or subject group.

The present invention relates to processes, systems and methods for estimating the effects of genetic polymorphisms associated with traits and diseases, based on distributions of observed effects across multiple loci. In particular, the present invention provides systems and methods for analyzing genetic variant data including estimating the proportion of polymorphisms truly associated with the phenotypes of interest, the probability that a given polymorphism has a true association with the phenotypes of interest, and the predicted effect size of a given genetic variant in independent de novo samples given effect size distributions in observed samples. The present invention also relates to using the described systems and methods and use of genetic polymorphisms across a plurality of loci and a plurality of phenotypes to diagnose, characterize, optimize treatment and predict diseases and traits.

The invention relates to the role of genes in human diseases. More particularly, the invention relates to compositions and methods for identifying genes that are involved in human disease conditions. The invention provides identification and mapping of a very large number of SNPs throughout the entire human genome. This contribution allows scientists to isolate and identify genes that are relevant to the prevention, causation, or treatment of human disease conditions.

The invention discloser SSR markers lined with major genes of cotton fiber strength, which is obtained by the following steps: generating F2 and F2:3 populations by using a cotton search 41 line sGK9708 selected from cultivated varieties of gossypium hirsutum and a high quality line 0-153 of gossypium hirsutum as parents; allowing generation within the family of the F2:3 population to self cross till the F2:6 generation, performing within-family individual selection of the F2:6 generation once, and planting two generation till F6:8; performing polymorphism screening of the parents by using SSR primers and creating an RIL population linkage map; and performing the multi-environment major QTL screening of the cotton fiber strength to screen 6 QTLs of a cotton fiber strength character from line 0-153, wherein 5 QTLs are multi-environment stable QTLs and are FS1 linkage marker NAU2119330, FS2 linkage markers BNL2572125, BNL1064110 and DPL0874210, FS4 linkage markers are NAU1048250 and NAU2627350, and FS5 linkage markers BNL1421200 and NAU2730450. The SSR markers lined with the major genes of the cotton fiber strength are screen from high fiber quality materials and used as molecular markers to perform early auxiliary selection on a DNA level to improve the selection efficiency of the cotton fiber strength.

The present invention relates to the selection of a set of polymorphism makers for use in genome wide association studies based on linkage disequilibrium mapping. In particular, the invention relates to the fields of pharmacogenomics, diagnostics, patient therapy and the use of genetic haplotype information to predict an individual's susceptibility to IBD (ex: Chrohn's disease) and/or their response to a particular drug or drugs.

The invention relates to a molecule marking method for pig backfat thickness property. The method comprises: extraction of pig genome DNA, design of a long-chain acyl-coenzyme Asynthetase 1 (ACSL1) gene seventh exon primer, amplification in vitro and genotype detection. For the first time, it is discovered that the polymorphism of the long-chain acyl-coenzyme Asynthetase 1 (ACSL1) gene seventeenth exon has significant correlation with the pig backfat thickness, and a method for detecting the restriction fragment polymorphism at mutation sites of the seventeenth exon is established. The molecule marking method is applicable to auxiliary selection on backfat thickness property during breeding of pigs, helps to realize early-stage breeding selection of boars, and even helps to accurately select breeding just when pigs are born, so that the generation interval is shortened, and the selection progress of the backfat thickness property is accelerated; and the method is simple in operation, condition requirements during a polymerase chain reaction are low, the length of amplified fragments is relatively short (292 bp), amplification is relatively easy, and the method helps to improve amplification efficiency and accuracy of genotype determining.

The invention relates to a method for performing multi-gene disease inheritance risk comprehensive assessment to an individual. The method comprises the following steps that: inheritance risk factors of a special multi-gene disease in a special crowd are screened; the risk degree of each risk factor to the special multi-gene disease is determined; and resources such as NCBI, HapMap databases and so on, are utilized to determine the frequencies of gene types of polymorphic gene type loci in the special crowd. The method is characterized in that: an assessment model is established, and the risk rank of the multi-gene disease of the individual is assessed from the genetic angle. The method is a comprehensive, objective, easily-operated, and intellectualized risk assessment method.

Disclosed herein are genetic markers for animal meat quality and reproductive efficiency, methods for identifying such markers, and methods of screening animals to determine those more likely to produce larger litters and/or better meat quality and preferably selecting those animals for future breeding purposes. The markers are based upon the presence or absence of certain polymorphisms in the PRKAG3 gene.

The invention relates to the field of molecular biology and medical science, and in particularly relates to a sudden cardiac death mutant gene detection kit which is high in accuracy and good in predictability. The kit is used for performing polymorphism detection on 12 SNP sites of 8 major genes related to sudden cardiac death; three forward and reverse specific primers are respectively adopted for each SNP site by combining the characteristics of specific allelic gene PCR (polymerase chain reaction) and temperature gradient descent PCR; and the mutation of the 12 SNP sites can be simultaneously determined by virtue of program amplification of the temperature gradient descent PCR and agarose gel electrophoretic analysis. The detection kit provided by the invention is strong in specificity, high in detection rate, high in efficiency and low in cost, and can be used for screening high-risk population of sudden cardiac death, evaluating the risk degree of having the sudden cardiac death for a detected patient, and making clear pathogenic factors of patient sudden death from a gene level, thereby providing a new way of preventing, diagnosing and treating clinical sudden death.

The invention discloses an ISSR molecular marking based method for constructing a Chinese asparagus bean generic resource database and application thereof. The invention also utilizes the data base to identify the trueness of a variety; according to field forms, the consistency and typicality among individual plants of the variety are identified, separated and atypical materials are given up, and DNA of the individual plant of the consistent and typical variety is picked up; by utilizing three ISSR markings with high polymorphism, the consistency of DNA level among the individual plants is primarily selected, and the variety and individual plant constructing a fingerprint are finally determined; and by utilizing the finally selected variety and individual plant, the ISSR analysis of the Chinese asparagus bean is made to construct a fingerprint database. The invention overcomes the defects existing in the construction of the prior generic resource database, such as separation among different individual plants of the variety and impurity on the DNA level, the reliability and accuracy of the Chinese asparagus bean ISSR fingerprint data base constructed by the method are greatly improved, and the planting varieties of the Chinese asparagus bean can be effectively and conveniently identified and distinguished.

The invention discloses an SNP (single nucleotide polymorphism) marker related to melon powdery mildew resistance and an application of the SNP marker. The application provided by the invention is the application of SNP at a following SNP site in a melon genome or a substance for detecting SNP of the following SNP site in the melon genome in identification or assistant identification of the melon powdery mildew resistance; the SNP site in the melon genome corresponds to the 23rd site in a nucleotide sequence shown in sequence 8 in a sequence table; nucleotide at the SNP site is C or G. The SNP marker provides technical support for selective breeding and molecular breeding of melon powdery mildew resistant varieties, and has significant application value in selective breeding of melon powdery mildew resistant varieties.

The invention discloses an EST-SSR core primer group developed on the basis of the transcriptome sequence of towel gourd. The EST-SSR core primer group comprises 50 pairs of primers with nucleotide sequences as shown in SEQ ID No. 1-100 in a sequence table. The 50 pairs of EST-SSR core primers have the advantages of abundant polymorphism, stable amplification, good repeatability, convenience in statistics, etc.; meanwhile, since the primers are originated from the expressed gene of towel gourd and can reflect variation of functional sequences in a genome, so germplasm genetic diversity of towel gourd can be better distinguished. The core primer group can be used in fields like identification of the variety of towel gourd, genetic genealogical analysis of varieties and analysis of germplasm genetic diversity, is beneficial for protection of legal interests of breeders, producers and consumers and promotes sound development of genetic breeding and production of towel gourd.

The invention belongs to the technical field of animal gene engineering, relating to clone of cattle longisimus dorsi tenderness related CAPN1 gene segment and an application thereof in cattle marker assisting selection. The obtained CAPN1 gene segment has the nucleotide sequence length of 520bp and comprises full fourteenth exons. A base mutation from A to G exists at the 166bp of the segment, which results in the generation of PsuI-RFLP restriction enzyme polymorphism. The mutation site is taken as a molecular marker, the restriction enzyme PsuI is used for detecting the mutation site, and association analysis can be carried out on the detection result and the cattle longisimus dorsi tenderness. Analysis result shows that striking difference exists among the longisimus dorsi tenderness of different genotype individuals, thus providing a theoretical basis for the seed selection and breeding of cattle. The invention is characterized by obtaining the CAPN1 gene part segment related to the cattle longisimus dorsi tenderness and providing the molecular marker and the application for the marker assisting selection of cattle by using a PCR-RFLP method to carry out polymorphism analysis on the segment.

The invention discloses a molecular marker for identifying the genetic gender of nibea albiflora and application thereof. The molecular marker shows insertion/deletion length polymorphism of a nucleotide sequence shown as SEQ ID NO: 1; an individual having the nucleotide sequence shown as SEQ ID NO: 1 is a female nibea albiflora, and an individual without the nucleotide sequence shown as SEQ ID NO: 1 is a male nibea albiflora. The invention further discloses a primer pair, a kit and a method for detecting the molecular marker. The molecular marker can simply, conveniently, rapidly and stably identify the genetic genders of different individuals in each colony of the nibea albiflora, so that development of a unisexual breeding technology of the nibea albiflora and development of unisexual breeding of the nibea albiflora are facilitated, the breeding efficiency is further improved and nibea albiflora breeding economic benefits are increased; meanwhile, nibea albiflora gender determining mechanism and other relevant scientific researches are benefited.

The invention discloses a kiwi fruit InDel molecular marker and a screening method and application thereof. Two different cold-proof Actinidia arguta genome DNAs are used as research subjects, resequencing of four variety genes is carried out, InDel primers are designed according to resequencing data, and PCR (polymerase chain reaction) amplification, agarose electrophoresis and non-denaturing polyacrylamide gel electrophoresis are carried out; polymorphism detection is carried in Actinidia arguta to screen out 14 pairs of InDel primers, the 14 pairs of InDel primers are applicable to the genetic diversity analysis for Actinidia chinensis, Actinidia deliciosa and the like and are also applicable to the researches, such as hybrid offspring authenticity identification, genetic map construction, and molecule-assisted breeding. The kiwi fruit InDel primers according to the embodiment of the invention has good mutation stability and low detection difficulty, allow InDel insertion/loss of large fragments, and allows agarose analysis, with steps that may be simplified.

The invention discloses microsatellite DNA markers for Trionyx sinensis, which is characterized in that an enriched library of microsatellites (CA)n, (AAC)n, (ACAG)n and (GATA)n from the Trionyx sinensis is constructed, and positive clones of microsatellite sequences are screened and sequenced to obtain 63 clones containing microsatellite repetitive sequences, thus determining 15 microsatellite markers with rich polymorphism, namely, PSW01, PSW02, PSW03, PSW04, PSW05, PSW06, PSW07, PSW08, PSW09, PSW10, PSW11, PSW12, PSW13, PSW14 and PSW15. The microsatellite DNA markers for the Trionyx sinensis of the invention can be applied to researching genetic diversity and paternity test for the Trionyx sinensis in different geographical populations, have the advantage of good repeatability, and are reliable and effective molecular markers.

The invention discloses a molecular marker of a brassica napus anti-clubroot gene PbBa8.1 and a method for applying the molecular marker to anti-clubroot breeding through re-sequencing. The DNA molecular marker, capable of distinguishing anti-clubroot brassica napus and brassica napus being not resistant to clubroot, is obtained by conducting polymorphic analysis on sequences, around a PbBa8.1 locus, of two parents, and carrying out primer development design by utilizing the flanking sequences of an Indel locus. Primers, namely F A08-300: 5'-GTAGTGCGGGCCACAAAAT-3' and R A08-300: 5'-CACAATGGAGTGTTGAAATTCACT-3', aimed at the molecular marker are designed, and can be used for improving the anti-clubroot gene breeding speed and identification efficiency. The method is easy to carry out, high in repeatability, operability and identification speed, and low in detection cost, time consumption and labor cost, and has the advantages that the workload of selecting an anti-clubroot singleplant through phenotype identification in a field is greatly reduced.

The invention provides an SNP locus related to growth characteristics of patinopecten yessoensis. The locus is the 1054 site of IGFBP (Insulin Like Growth Factor Binding Proteins) genes of which the nucleotide sequence is shown as SEQ ID NO:2 and has the base of A or G. The invention also provides a probe for detecting the SNP locus and a parting primer. The transcription sequence of the IGFBP genes in the patinopecten yessoensis is subjected to sequencing and Clustal comparison, and three SNP loci are screened. The site polymorphism is detected in the patinopecten yessoensis group by using a high resolution melting curve technology, and correlation between the site genotype frequency and the growth characteristics of patinopecten yessoensis is analyzed. The locus C.1054A>G is obviously related to important growth characteristics such as the height, shell length, weight, soft weight and adductor muscle weight of the patinopecten yessoensis, the growth characteristics of the AG type individuals are obviously lower than those of AA and GG type individuals (P is less than 0.05), and the characteristic value of the GG type is the highest. Therefore, individuals of which the genotype is GG on the locus can be preferentially selected during production and are used as parents for performing high-yield patinopecten yessoensis breeding or performing large-scale breeding.

The present invention is directed to a panel of single nucleotide polymorphisms (SNPs) in specific genes that serve as biomarkers for sex-specific childhood leukemia risk. There is provided herein methods and reagents for assessing the specific SNPs in those genes. The method useful in applying these SNPs in predicting an increased risk or a decreased risk for childhood leukemia for males and females is also disclosed.

The invention discloses a method for detecting haploid copy number variation of tumor unicell genome. The method combines the population polymorphism site information of the tumor unicell and the change information of the genome copy number to analyze an abnormal region of the tumor unicell genome allele copy number, Compared with simple genome copy number changes or somatic mutations, one more dimension is increased, different unicell alleles can be effectively distinguished to from a zone with proportion abnormity, which has important significance for describe the heterogeneity of tumor genome and tumor genome evolution information.

The invention provides methods for determining the clinical outcomes for treatment with various treatment regimens available to cancer patients based on genotypes of the patients for genetic polymorphism markers. The invention also provides kits for making the determination.

The invention belongs to the technical field of porcine molecular marker screening, and in particular relates to porcine NTF3 promoter region SNP as a molecular marker for the boar breeding traits and applications of the porcine NTF3 promoter region SNP. The molecular marker is cloned from the 5' flank promoter fragment of the porcine NTF3 gene, the nucleotide sequences of the molecular marker are shown as SEQ ID NO:1 and SEQ NO:2, allele mutation of A/G and G/A exists at the 92nd basic group site of the sequence shown as SEQ ID NO:1 and SEQ NO:2, and the allele mutation causes the polymorphism of MvaI-RFLP. The marker is utilized for carrying out correlation analysis on the boar breeding traits of large white pigs and duroc pigs. The breeding traits comprise the boar sperm motility and the sperm density trait. The invention further discloses a typing detection method of the marker, and therefore, a novel marker is provided for selecting the boar breeding traits. The marker can be used for evaluating the boar breeding traits and researching the genetic improvement on the breeding boar breeding performance.

The invention relates to a molecular marker for mungbean weevil resistance gene linkage, which is used for screening mungbean weevil resistant genes. V2709, VC1973 (zhonglu No. 1) and the individual DNA of F2 separation population thereof are extracted by the CTAB method. 63 RAPD molecular markers, 100 pairs of SSR molecular markers and 28 pairs of STS molecular markers are adopted to carry out the PCR product polymorphism screening on the resistant bulk and the susceptible bulk of the two parents and the F2 progeny, and then each of F2 generation individuals is screened out the weevil resistance gene linkage marker. A RAPD primer, OPC-06 and a STS primer are found to link with a weevil resistance genes The molecular marker can target the weevil resistance gene, and the selection efficiency of weevil resistance breeding is greatly improved.

The invention aims to provide a detection method for searching the genetic mutation sites of porcine MMP23 and the genetic polymorphism, namely, the molecular marking method for speculating and identifying the litter size with MMP23. The invention provides the sequence of genomic nucleotides with a length of 482bp including the exons 2, 3 and 4 and the introns 2 and 3 of the porcine MMP23 gene of large white sows, Meishan pigs and Qingping pigs, and provides the single nucleotide polymorphism (SNP) of at two sites situating in the interior of the proliferated 482bp-long segment. The method provided by the invention can be used for developing diagnostic procedures or kits used for selecting the pigs carrying the advantageous alleles in breeding programs with better selective outcome.

The present invention belongs to the field of cotton breeding technology, and is especially the preparing technology of sea island cotton EST-SSR primer sequence and its application in cotton genetic diversity evaluation, molecular genetic linkage construction and TQL location of important cotton characters. The preparation process includes the following steps: establishing cDNA library of sea island cotton strain Pima3-79 fiber development and selecting EST of partial bases; designing SSR lateral wing primer; taking total DNA with plant leaf; amplifying with the designed primer; calculating the polymorphism information content of each pair of primers and performing cluster and main coordinate analysis of taken total DNA; and integrating the amplified EST-SSR to corresponding linkage group and performing TQL location of important cotton characters. The preparation results are also given.

The invention discloses a kit for detecting whether mutation occurs at a relevant single nucleotide polymorphism (SNP) locus on a disease-causing gene of a neural tube defect of a neonatus. The kit mainly comprises a specific primer pair and a specific fluorescent probe pair which are used for detecting a No.rs1801133 SNP locus polymorphism genotype and a No.rs1801131 SNP locus polymorphism genotype on a methylenetetrahydrofolate reductase (MTHFR) gene and a No.rs1801394 SNP locus polymorphism genotype on a methionine synthase reductase (MTRR) gene, and the conventional fluorescent quantitative PCR reaction reagent. The kit is used for detecting a mutant of the disease-causing gene of the neural tube defect of the neonatus, can be used for quickly and conveniently searching a carrier with the disease-causing gene, can be applied to antenatal diagnosis and timely treatment, and reduces the morbidity of the neutral tube defect of the neonatus so as to fulfill the aims of promoting good prenatal and postnatal care.