FIELD: medicine.
SUBSTANCE: pyrosequencing reaction is conducted with a system consisting of a forward primer, a reverse primer labeled with biotin, and a sequencing primer. A total of four primer systems were developed for four types of mtDNA mutations m.11778G> A, m.8993T> G, m.3243A> G, m.8344A> G, associated with hereditary mitochondrial diseases, presented as lyophilized substances.
EFFECT: invention provides molecular genetic detection of pathogenic mutations of mitochondrial DNA associated with hereditary mitochondrial pathologies, and determination of heteroplasmia level from these mutations.
2 cl, 2 dwg, 1 tbl
| Title | Year | Author | Number |
|---|---|---|---|
| GENETIC CONSTRUCT BASED ON CRISPR/Cas9 GENOME SYSTEM EDITING, CODING Cas9 NUCLEASE, SPECIFICALLY IMPORTED IN HUMAN CELLS MITOCHONDRIA | 2015 |
|
RU2634395C1 |
| GENETIC CONSTRUCT PMITOASCPF1, CODING NUCLEASE ASCPF1 WITH DETERMINANT OF IMPLANTATION IN THE MITOCHONDRIA OF HUMAN CELLS | 2016 |
|
RU2662994C2 |
| METHOD FOR CORRECTION OF MITOCHONDRIAL DYSFUNCTION BY GENETIC CONSTRUCT | 2016 |
|
RU2642972C1 |
| GENETIC CONSTRUCTS ENCODING NUCLEASES Cas9-BE4-Gam AND Cas9-ABE 7.10, WHICH ARE DIRECTED INTO MITOCHONDRIA OF HUMAN CELLS | 2018 |
|
RU2709739C1 |
| METHOD OF DETERMINING DEGREE OF HETEROPLASMY MUTATIONS OF MITOCHONDRIAL GENOME | 2015 |
|
RU2600023C1 |
| NUCLEIC ACID FOR ALLOTOPIC EXPRESSION OF MT-ND4 GENE | 2023 |
|
RU2809065C1 |
| METHOD FOR DETERMINATION OF GENETIC PREDISPOSITION TO ATHEROSCLEROSIS, ISCHEMIC HEART DISEASE AND MYOCARDIAL INFARCTION | 2016 |
|
RU2641568C1 |
| MODIFICATION OF STRUCTURE OF SpCas9 NUCLEIC ACID GUIDING RNA MOLECULE TO ENSURE IMPORT OF HUMAN CELLS INTO MITOCHONDRIA | 2018 |
|
RU2717977C1 |
| METHOD OF GENOTYPING TLR8 GENE USING RS3764880 POLYMORPHISM AND A SET OF OLIGONUCLEOTIDE PRIMERS AND PROBES FOR ITS IMPLEMENTATION | 2023 |
|
RU2805864C1 |
| METHOD OF GENOTYPING TLR2 GENE USING RS5743708 POLYMORPHISM AND A SET OF OLIGONUCLEOTIDE PRIMERS AND PROBES FOR ITS IMPLEMENTATION | 2023 |
|
RU2805861C1 |
