| METHOD FOR PREIMPLANTATION GENETIC TESTING OF STARGARDT DISEASE | |
| 2023-11-24 | |
| 专利权人 | GENETICO GENETICS & REPRODUCTIVE MEDICIN (GENE-Non-standard) |
| 申请日期 | 2023-11-24 |
| 专利号 | RU2831940-C1 |
| 成果简介 | NOVELTY - Invention relates to a method for diagnosing a monogenic disease Stargardt disease in conditions of preimplantation genetic testing (PGT). Test system for diagnosing pathogenic variants is developed NC_000001.10:g.94508353G>A (NM_000350.3:c.3292C>T), NC_000001.10:g.94514475C>A (NM_000350.3:c.2692G>T), NC_000001.10:g.94476951A>G (NM_000350.3:c.5461–10T>C) in ABCA4 gene for use within PGT of monogenic Stargardt disease with possibility of direct and indirect diagnosis. USE - Biotechnology. ADVANTAGE - Within the framework of testing the test system, high specificity and efficiency, as well as versatility with respect to biosamples of various types have been shown: single cells, a product of whole genome amplification, total DNA recovered from different tissues; wherein the developed test system can be used not only for detecting a specific pathogenic variant, but also for any other pathogenic variant or several in the ABCA4 gene using indirect detection; using the developed test system, preimplantation genetic testing of Stargardt disease was carried out for families with a high risk of developing this disease in future children. 1 cl, 2 tbl, 1 ex |
| IPC 分类号 | C12Q-001/6806 ; C12Q-001/6876 |
| 国家 | 俄罗斯 |
| 专业领域 | 生物科学 |
| 语种 | 英语 |
| 成果类型 | 专利 |
| 文献类型 | 科技成果 |
| 条目标识符 | http://119.78.100.226:8889/handle/3KE4DYBR/19185 |
| 专题 | 中国科学院新疆生态与地理研究所 |
| 作者单位 | GENETICO GENETICS & REPRODUCTIVE MEDICIN (GENE-Non-standard) |
| 推荐引用方式 GB/T 7714 | ISAEV A A,MUSATOVA E V,SOFRONOVA YA V,et al. METHOD FOR PREIMPLANTATION GENETIC TESTING OF STARGARDT DISEASE. RU2831940-C1[P]. 2023. |
| 条目包含的文件 | 条目无相关文件。 | |||||
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