FIELD: biotechnology.
SUBSTANCE: invention relates to a method of diagnosing a monogenic disease zonular cataract under conditions of preimplantation genetic testing (PGT). The method has high specificity and efficiency, as well as versatility in relation to biosamples of various types: single cells, the product of whole genome amplification, total DNA isolated from different tissues.
EFFECT: method can be used not only for the detection of a specific pathogenic variant, but also for any other pathogenic variant or several in the GJA3 gene using indirect detection.
1 cl, 1 tbl, 1 ex
| Title | Year | Author | Number |
|---|---|---|---|
| METHOD OF PREIMPLANTATION GENETIC TESTING FOR SPONDYLOEPIPHYSEAL DYSPLASIA | 2022 |
|
RU2803650C1 |
| PREIMPLANTATION GENETIC TESTING METHOD FOR ACHONDROPLASIA | 2022 |
|
RU2795482C1 |
| PREIMPLANTATION METHOD OF MARTINE-BELL SYNDROME GENETIC TESTING | 2022 |
|
RU2796834C1 |
| METHOD FOR PREIMPLANTATION GENETIC TESTING OF SMITH-LEMLI-OPITZ SYNDROME | 2023 |
|
RU2816650C1 |
| PREIMPLANTATION GENETIC TESTING METHOD FOR ALPORT SYNDROME | 2022 |
|
RU2795481C1 |
| METHOD OF PREIMPLANTATION GENETIC TESTING OF FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY | 2023 |
|
RU2808833C1 |
| METHOD FOR PREIMPLANTATION GENETIC TESTING OF TYPE 4 OSTEOPETROSIS | 2022 |
|
RU2795483C1 |
| METHOD FOR PRE-IMPLANTATION GENETIC TESTING OF BREAST AND OVARIAN CANCER | 2021 |
|
RU2777091C1 |
| METHOD FOR PRE-IMPLANTATION GENETIC TESTING OF LOUIS-BAR SYNDROME | 2021 |
|
RU2777081C1 |
| METHOD FOR PRE-IMPLANTATION GENETIC TESTING OF TYPE 1 FAMILIAL FOCAL EPILEPSY | 2021 |
|
RU2777084C1 |
