Invention Publication
CN103374575A CYP4V2基因突变体及其应用
失效 - 权利终止
- Patent Title: CYP4V2基因突变体及其应用
- Patent Title (English): CYP4V2 gene mutant and application thereof
-
Application No.: CN201310130824.6Application Date: 2013-04-16
-
Publication No.: CN103374575APublication Date: 2013-10-30
- Inventor: 孟晓红 , 阴正勤 , 徐海伟 , 黎其友 , 李世迎 , 刘勇
- Applicant: 中国人民解放军第三军医大学第一附属医院
- Applicant Address: 重庆市沙坪坝区高滩岩正街30号
- Assignee: 中国人民解放军第三军医大学第一附属医院
- Current Assignee: 中国人民解放军第三军医大学第一附属医院
- Current Assignee Address: 重庆市沙坪坝区高滩岩正街30号
- Agency: 北京海虹嘉诚知识产权代理有限公司
- Agent 谢殿武
- Main IPC: C12N15/12
- IPC: C12N15/12 ; C12Q1/68 ; C12Q1/02 ; C12M1/34 ; C07K14/47 ; G01N33/68
Abstract:
本发明“CYP4V2基因突变体及其应用”，属于医学分子生物学领域。本发明一方面请求保护分离到的原发性结晶样视网膜变性疾病的CYP4V2新突变致病基因及其突变体多肽，其特征在于所述突变致病基因的核酸样本与编码野生型CYP4V2蛋白的基因，如SEQ ID NO：1所示的核苷酸序列相比，第219位碱基发生T>A的突变。本发明基于该分离到的致病突变体基因，进一步提供了筛选易感原发性结晶样视网膜变性疾病的生物样品的方法、筛选易感原发性结晶样视网膜变性疾病的生物样品的系统，用于筛选易感原发性结晶样视网膜变性疾病的生物样品的试剂盒以及筛选治疗或预防原发性结晶样视网膜变性疾病的药物的方法。
Abstract(English):
basic group suffers from T>A mutation. Based on the separated pathogenic mutant gene, the invention further provides a method, system and kit for screening biological samples susceptible to BCD as well as a method for screening medicines for treating or preventing BCD.
The invention provides a CYP4V2 gene mutant and an application thereof, belonging to the field of medical molecular biology. The invention applies to protect the separated new CYP4V2 mutant pathogenic gene of Bietti crystalline dystrophy (BCD) and a mutant polypeptide thereof on the one hand. The gene is characterized in that compared with genes coding wild type CYP4V2 proteins, such as nucleotide sequences shown in SEQ ID NO:1, a nucleic acid sample of the mutant pathogenic gene has the characteristic that the (219)
Public/Granted literature
- CN103374575B CYP4V2基因突变体及其应用 Public/Granted day:2015-01-07
Information query
IPC分类:
Patent Agency Ranking
