| METHOD FOR PREIMPLANTATION GENETIC TESTING OF MARFAN SYNDROME | |
| 2023-11-24 | |
| 专利权人 | GENETICO GENETICS & REPRODUCTIVE MEDICIN (GENE-Non-standard) |
| 申请日期 | 2023-11-24 |
| 专利号 | RU2837158-C1 |
| 成果简介 | NOVELTY - Invention relates to biotechnology, in particular to a method for pre-payment genetic testing of a pathogenic variant NC_000015.9:g.48725062C>G (NM_000138.5:c.6739+1G>C) in the FBN1 gene, associated with Marfan syndrome. Said method involves detecting the inheritance of said pathogenic variant and includes a dual detection system – direct and indirect, where direct detection is carried out using primers for amplification, characterized by sequences SEQ ID NO: 36-41, and indirect detection is carried out using primers for analysis of inheritance of molecular genetic markers of STR type, linked to a pathogenic variant, selected from SEQ ID NO: 1-35. USE - Biotechnology. ADVANTAGE - Present invention provides a test system for diagnosing a pathogenic variant NC_000015.9:g_48725062C>G (NM_000138.5:c_6739+1G>C) in the FBN1 gene with dual detection system – direct and indirect. 1 cl, 2 tbl, 1 ex |
| IPC 分类号 | C12Q-001/68 ; G01N-033/48 |
| 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/19184 |
| 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 MARFAN SYNDROME. RU2837158-C1[P]. 2023. |
| 条目包含的文件 | 条目无相关文件。 | |||||
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