11 results about "Genetic heredity" patented technology

The invention belongs to the technical field of biological information detection, provides a genetic detection method, system, product and equipment before embryo implantation, and aims to solve the problems that a conventional genetic detection process before embryo implantation is complicated, depends on a complete family sample, is difficult to distinguish equilibrium translocation and unbalanced translocation, is low in linkage analysis efficiency, needs to independently detect items and the like. According to the method provided by the invention, parent haplotypes can be constructed on the basis of monomolecular length reading sequencing data of male parents, female parents and to-be-implanted embryo samples in families, sequence similarity is analyzed on the basis of the parent haplotypes, and the to-be-implanted embryo samples can be obtained by tracing genetic sources of the haplotypes of the to-be-implanted embryo samples. And determining whether the to-be-implanted embryo carries the single-gene genetic disease and / or chromosome structure rearrangement or not. According to the method, integrated detection of aneuploidy, monogenic hereditary diseases and chromosome structure rearrangement before embryo implantation can be completed on a single platform, and whether the embryo to be implanted has genetic defects or not can be quickly, simply, efficiently and accurately judged in a one-stop manner.

The present application belongs to the technical field of biological information detection, and provides a pre-implantation genetic diagnosis method, system, product and equipment. The present application is aimed at the problems of complex traditional pre-implantation genetic diagnosis process, dependence on complete family sample, difficulty in distinguishing balanced translocation and unbalanced translocation, low linkage analysis efficiency, and the need for independent detection, etc. The method provided by the present application can be based on single molecule long read sequencing data of the paternal sample, the maternal sample and the to-be-implanted embryo sample in the family, construct the parental haplotype, and analyze the sequence similarity based on the same. By tracing the genetic source of the haplotype of the to-be-implanted embryo sample, it is determined whether the to-be-implanted embryo carries a monogenic genetic disease and / or a chromosome structure rearrangement. The present application can complete the integrated detection of pre-implantation aneuploidy, monogenic genetic disease and chromosome structure rearrangement on a single platform, and quickly, simply, efficiently and accurately determine whether the to-be-implanted embryo has genetic defects.

The invention belongs to the technical field of gene inheritance, and particularly relates to a CDB simple arabian jasmine flower genetic transformation method which comprises the following specific steps: selecting different physiological parts of arabian jasmine flowers as candidate explants, performing scratch pretreatment, setting time gradient for pre-culture, and screening the optimal duration; the method comprises the following steps: screening three agrobacterium adaptive strains, namely AR1193, GV3101 and EHA105, and constructing a vector containing an RUBY visual reporter gene; according to the application, the RUBY reporter gene is adopted, the positive transformant can be directly recognized through red color development under natural light, DNA extraction and PCR detection do not need to be carried out in the early stage, the screening process is simplified, the screening period is shortened, the transformation efficiency can be improved only by lightly scratching an explant with a sterile blade, and complex tissue culture for inducing callus is not needed; the soaking method is adopted for infection, ultrasonic-assisted delivery is matched, operation is convenient and fast, professional high-end equipment is not needed, clear gradients are set for key conditions, optimized parameters can be directly reused, the test exploration cost is reduced, and the method is suitable for being popularized in different laboratories.

The invention provides a probe composition, a gene chip, a reagent, a kit and application. The probe composition is designed based on capture areas of 34 genes related to dominant single-gene genetic diseases, can be used for non-invasive prenatal genetics screening, and is suitable for prenatal screening of genetic variation positive family history, bad fertility history, fetal ultrasound examination abnormality, pregnant woman elderly, father elderly and the like. The omission ratio and the birth rate of fetuses suffering from the dominant single-gene hereditary disease are effectively reduced.

A method for rapidly and accurately discovering the genetic interactions of quantitative trait genes in rice. The method of the present invention comprises analyzing the phenotypic difference P values of four QTL allele combinations from any two bins in the subpopulation genome of a rice NAM population; selecting QTL loci that can be simultaneously mapped as candidate QTLs; performing P value analysis of bins for the QTL loci and the regions within 1 Mb upstream and downstream thereof and merging the Pbin values; performing FDR analysis on PM values of all the QTLs and the upstream and downstream regions thereof, and determining the genetic interactions of the QTL loci on the basis of a FDR value <0.01; merging the QTL loci on the basis of LOD values and P values; and discovering key quantitative trait genes from the rice QTL loci with genetic interactions, thereby determining the genetic interaction relationship among the quantitative trait genes in rice. The method can improve the accuracy in discovering the genetic interactions of quantitative trait genes in rice.

The invention discloses an automatic selection and matching method for live pig breeding and a computer program product. The method comprises the following steps: S1, receiving sows which need to be selected and matched and boars which can be matched and are selected by a user, and receiving selection and matching constraint parameters set by the user; s2, pedigree data and character breeding value data of sows needing to be selected and mated and boars capable of being mated are obtained; s3, calling an automatic matching script to execute an automatic matching step; S31, constructing a genetic relationship matrix of sows needing to be matched and matched boars according to the pedigree data; s32, generating a plurality of candidate pairing schemes according to the matching constraint parameters, the character breeding value data and the genetic relationship matrix; s33, performing cross pairing iterative calculation on the plurality of candidate pairing schemes by adopting a genetic algorithm until an optimal pairing scheme is obtained through optimization solution; and S34, outputting the matching scheme with the maximum genetic contribution value MSI to the user as the optimal matching scheme. According to the method, gene genetic contribution maximization is realized during generation of the pairing scheme, and excellent genes can be integrated to obtain an optimal pairing scheme.

This invention relates to the fields of biotechnology and medicine, specifically to methods and systems for screening gene mutation sites associated with the risk of complex diseases, constructing multi-gene genetic risk rating models for complex diseases, and predicting the risk of disease onset.

The invention relates to an endometrial cancer molecular typing, medication and genetic susceptibility related gene detection kit and application thereof. The detection kit comprises a probe group for targeted medication related genes, genetic susceptibility related genes, immunotherapy related genes and molecular typing related genes. On the basis of a next-generation sequencing technology, more than 100 genes highly related to development of endometrial cancer can be detected at a time by utilizing a hybrid capture method, and the genes comprise genes related to targeted medication, genes related to genetic susceptibility, genes related to immunotherapy and genes related to molecular typing. The probe is wide in coverage, high in sequencing depth and capable of detecting germline variation of all exon regions of related genes. The invention can report endometrial cancer targeted medication related variation and immunotherapy related variation, also can report all related diseases of genetic susceptibility related genes, and provides genetic modes corresponding to the diseases.

The invention belongs to the technical field of molecular biological detection, and particularly relates to an SNP molecular marker of a sorghum plant height related gene SbDW2 and application. The SNP molecular marker is screened from the sorghum plant height related gene SbDW2, the molecular marker is located at the 549th site of the SbDW2 gene sequence, a primer combination for detecting the site is designed, and precise typing of the SbDW2 gene can be achieved in the whole growth period of sorghum. The molecular marker is directly linked with gene function variation, the detection cost is low, the efficiency is high, the breeding period can be shortened when the molecular marker is applied to sorghum breeding, the genetic basis of dwarf sorghum genes is widened, and a key basis is provided for cultivating new lodging-resistant high-yield sorghum varieties.

In alternative embodiments, the invention provides nucleic acid sequences that are genetic polymorphic variations of the human TMEM216 gene, and TMEM216 polypeptide encoded by these variant alleles. In alternative embodiments, the invention provides methods of determining or predicting a predisposition to, or the presence of, a ciliopathy (or any genetic disorder of a cellular cilia or cilia anchoring structure, basal body or ciliary function) in an individual, such as a Joubert Syndrome (JS), a Joubert Syndrome Related Disorder (JSRD) or a Meckel Syndrome (MKS). In alternative embodiments, the invention provides compositions and methods for the identification of genetic polymorphic variations in the human TMEM216 gene, and methods of using the identified genetic polymorphisms and the proteins they encode, e.g., to screen for compounds that can modulate the human TMEM216 gene product, and possibly treat JS, JSRD or MKS. In alternative embodiments, the invention provides cells, cell lines and / or non-human transgenic animals that can be used as screening or model systems for studying ciliopathies and testing various therapeutic approaches in treating ciliopathies, e.g., JS, JSRD or MKS.

The invention discloses a method for breeding transgenic chickens with offspring stable genetic specific sites, and belongs to the technical field of animal husbandry and animal genetic engineering. The method comprises the following steps: separating and culturing chick embryo gonad primordial germ cells; a lentivirus-mediated exogenous gene is inserted into the PGCs, transgenic PGCs are screened, and the biological characteristics of the transgenic PGCs are verified; transplanting the transgenic PGCs to a receptor chick embryo to obtain a chimeric chicken; the method comprises the following steps: carrying out test cross to obtain an F1 generation, screening out a transgenic chicken with an exogenous gene integrated to 6528773-6528774 sites of a chicken 10 # chromosome through whole genome sequencing, and verifying genetic stability in F2-F3 generations. The result shows that the F1-F3 generation exogenous gene genetic mode accords with the Mendel segregation law, insertion sites are not lost or rearranged, and the growth performance and the reproductive performance are the same as those of wild chickens. According to the method, the problems of genetic instability and phenotype abnormality caused by random insertion are solved, and an efficient method is provided for stable breeding of transgenic chickens.