FIELD: biotechnology.
SUBSTANCE: described is a method for diagnosing the monogenic disease familial focal epilepsy 1 in settings of pre-implantation genetic testing (PGT). For this purpose, the pathogenic variant NC_000022.11:g.32188751C>T (NM_001242896.1:c.715C>T, NP_001007189.1:p.Arg239Ter) is diagnosed in the DEPDC5 gene for use within the PGT of the monogenic disease familial focal epilepsy 1 with the possibility of direct and indirect diagnosis.
EFFECT: high specificity and effectiveness were revealed within the framework of the method, as well as versatility with respect to various biological samples: single cells, product of genome-wide amplification, total DNA isolated from different tissues.
1 cl, 1 ex
| Title | Year | Author | Number |
|---|---|---|---|
| PREIMPLANTATION GENETIC TESTING METHOD FOR FANCONI ANEMIA | 2022 |
|
RU2792147C1 |
| METHOD FOR PRE-IMPLANTATION GENETIC TESTING OF EPIDERMOLYSIS BULLOSA | 2021 |
|
RU2777086C1 |
| METHOD FOR PRE-IMPLANTATION GENETIC TESTING OF CYSTIC FIBROSIS | 2021 |
|
RU2777078C1 |
| METHOD FOR PREIMPLANTATION GENETIC TESTING OF NON-SYNDROMIC SENSORINEURAL HEARING LOSS | 2022 |
|
RU2791878C1 |
| METHOD FOR PRE-IMPLANTATION GENETIC TESTING OF LOUIS-BAR SYNDROME | 2021 |
|
RU2777081C1 |
| CANAVAN DISEASE PREIMPLANTATION GENETIC TESTING METHOD | 2020 |
|
RU2748289C1 |
| METHOD FOR PRE-IMPLANTATION GENETIC TESTING OF FAMILIAL HYPERTROPHIC CARDIOMYOPATHY | 2021 |
|
RU2772938C1 |
| METHOD FOR PREIMPLANTATION GENETIC TESTING OF TYPE 1 HEREDITARY MULTIPLE OSTEOCHONDROMAS | 2022 |
|
RU2795824C1 |
| METHOD OF PREIMPLANTATION GENETIC TESTING FOR SPONDYLOEPIPHYSEAL DYSPLASIA | 2022 |
|
RU2803650C1 |
| METHOD OF PREIMPLANTATION GENETIC TESTING OF METACHROMATIC LEUKODYSTROPHY | 2020 |
|
RU2742956C1 |
