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33 results about "Mitochondrial mutation" patented technology

Mitochondrial diseases are sometimes (about 15% of the time) caused by mutations in the mitochondrial DNA that affect mitochondrial function. Other mitochondrial diseases are caused by mutations in genes of the nuclear DNA, whose gene products are imported into the mitochondria (mitochondrial proteins) as well as acquired mitochondrial conditions.

Construction method for human single cell mitochondrial high-throughput sequencing library and kit for library construction

The invention provides a construction method for a human single cell mitochondrial high-throughput sequencing library and a kit for library construction. The kit includes mitochondrial genome full-loop amplification primers, single cell lysate, terminal repaired, phosphorylated and 3' added adenylate components of high-throughput library construction, adaptors of high-throughput library construction and forward and reverse library amplification primers. The method realizes the high-throughput sequencing library construction of single or several cell mitochondrial genomes DNA in a mitochondrialgenome complete full-loop amplification based system, and high miss rates and high-proportion false positive site detection rates brought by conventional single cell amplification systems can be evaded, so that massive disadvantages in mitochondrial mutation detection can be got rid of at the single cell level, high sensitivity and accuracy detection can be realized; and as the method adopts themode of full-loop and full-length mitochondrial amplification, the large fragment duplication and deletion of mitochondrial DNA can be discovered while mutation sites are detected.
Owner:福州福瑞医学检验实验室有限公司

Inherited Mitochondrial Dna Mutations in Cancer

A method is provided for identifying a subject likely to have, or at risk of developing a disease condition correlated with increased reactive oxygen species (ROS), including cancer, by identifying in the subject a missense mutation in a nucleic acid of Complex III, IV and/or V of the OXPHOS system. This invention also provides a method of identifying a likelihood of having a heritable predisposition to cancer by detecting a homoplasmic missense mutation in non-tumor tissue of an OXPHOS system gene. This invention also provides a method for detecting likelihood of having cancer, predisposition to cancer, and likelihood of passing a predisposition to cancer to progeny involving identifying in non-tumor tissue of the subject a missense mutation in a complex III, IV and/or V gene of the mitochondrial OXPHOS system. The mutation may be a nuclear or mitochondrial mutation. The invention has been exemplified with respect to prostate cancer. When the mutation is homoplasmic in non-tumor tissue this is an indication it is an inherited and inheritable trait, and that the subject is likely to pass on the mutation to her progeny in the case of mutations in mitochondrial DNA or his or her progeny in the case of mutations in nuclear DNA. Both homoplasmic and heteroplasmic mutations in non-tumor tissue can indicate the presence of cancer.
Owner:EMORY UNIVERSITY

Primer pair, probe set and kit for detecting mitochondrial obesity gene mutation

The invention belongs to the technical field of biological detection, and discloses a primer pair, a probe set and a kit for detecting mitochondrial obesity gene mutation. The kit takes human DNA as a formwork, fluorescence quantitative PCR amplification is carried out to obtain an amplification curve, and a mitochondrial tRNA Leu (UUR) 3243A more than G mutation site can be quickly, accurately and sensitively detected. The kit is further provided with a wild type site probe, and the relative ratio of a mutant type to a wild type is obtained through Ct values of the mutant type and the wild type probe. The blank of clinically detecting the tRNA Leu (UUR) 3243A more than G mutation site is filled, and timely auxiliary data is provided for subsequent treatment of related diseases. The kit is good in repeatability and high in precision. The kit is short in detection period, detection can be completed within 45 minutes at the soonest, the detection time is saved, the efficiency is improved, and the kit is an efficient auxiliary detection means. In the application of non-diagnosis purposes, detection can be completed only by mixing the kit and a collected sample through a fluorescence quantitative PCR instrument, the operation requirement is simple, and the clinical popularization performance is high.
Owner:北京华诺奥美基因生物科技有限公司

Fluorescent quantitative PCR (Polymerase Chain Reaction) detection kit for mutation A1555G of mitochondrial deafness and application of fluorescent quantitative PCR detection kit

The invention provides a fluorescent quantitative PCR (Polymerase Chain Reaction) detection kit for common mutation A1555G of mitochondrial deafness. The kit comprises quantitative PCR reaction solutions, a first positive control, a second positive control, a negative control, a description and a box body, wherein the quantitative PCR reaction solutions contain a PCR buffer solution, MgCl2, dNTPs, heat-resistant DNA polymerase, an upstream amplification primer, a downstream amplification primer, a first fluorescent probe and a second fluorescent probe. According to the kit provided by the invention, two MGB probes are designed for A>G mono-base mutation of a 1555th locus of mtDNA, and whether the locus is subjected to A>G mutation or not is determined through detecting 1555th nucleotide of a mitochondrion correlated to deafness by fluorescent quantitative PCR, so that the kit has the advantages of simplicity, convenience, rapidness, accuracy and the like, can be applied to the clinical diagnosis and control of deafness related to mitochondrial mutation A1555G and can also be used for providing a foundation for preventing and treating the mitochondrial deafness induced by the mutation A1555G.
Owner:ZHEJIANG UNIV

Fluorescent quantitative PCR (Polymerase Chain Reaction) detection kit for mutation T12201C of mitochondrial deafness and application of fluorescent quantitative PCR detection kit

The invention provides a fluorescent quantitative PCR (Polymerase Chain Reaction) detection kit for common mutation T12201C of mitochondrial deafness. The kit comprises quantitative PCR reaction solutions, a first positive control, a second positive control, a negative control, a description and a box body, wherein the quantitative PCR reaction solutions contain a PCR buffer solution, MgCl2, dNTPs, heat-resistant DNA polymerase, an upstream amplification primer, a downstream amplification primer, a first fluorescent probe and a second fluorescent probe. According to the kit provided by the invention, two MGB probes are designed for T>C mono-base mutation of a 12201th locus of mtDNA, and whether the locus is subjected to T>C mutation or not is determined through detecting 12201th nucleotide of a mitochondrion correlated to deafness by fluorescent quantitative PCR, so that the kit has the advantages of simplicity, convenience, rapidness, accuracy and the like, can be applied to the clinical diagnosis and control of deafness related to mitochondrial mutation T12201C and can also be used for providing a foundation for preventing and treating the mitochondrial deafness induced by the mutation T12201C.
Owner:ZHEJIANG UNIV

Method for predicting mitochondrial DNA mutation threshold, fertility risk and egg taking number

ActiveCN114023382AAids in genetic managementHealth-index calculationBiostatisticsMutation CarrierEgg count
The invention discloses a method for predicting a mitochondrial DNA mutation threshold value, a fertility risk and an egg taking number. The method comprises the following steps: firstly, establishing a mitochondrial mutation incidence probability prediction model and estimating a mutation threshold value s, then establishing a fertility risk prediction model and predicting a fertility risk p of a mutation carrier, and then, establishing an oocyte extraction prediction model by utilizing binomial distribution, and calculating the PGT egg taking number of a mutation carrier. According to the method, the disease probability prediction model is used for estimating the threshold value of common mtDNA mutation, and the fertility risk and the PGT egg taking number of the mother are predicted. On the basis of the established fertility risk prediction model and an egg taking prediction model, the reproduction risk and the minimum PGT egg taking number required by reproduction of a healthy offspring can be calculated only by knowing the mitochondrial DNA mutation proportion of a mutation carrier, so that clinical doctors can carry out genetic management on families carrying mtDNA heteromutation and provide genetic counseling, and a standard guide of PGT is provided.
Owner:THE FIRST AFFILIATED HOSPITAL OF ANHUI MEDICAL UNIV
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