先天性非结合性高胆红素血症的分子诊断、治疗进展  

Development on Molecular Diagnosis and Therapy of Hereditary Non Conjugate Bilirubinemia

作　　者：栾翔凌[1] 辛绍杰[2] 

机构地区：[1]解放军军医进修学院,北京100853 [2]解放军302医院感染3科,北京100039

出　　处：《生物技术通讯》2008年第3期440-442,共3页Letters in Biotechnology

摘　　要：先天性非结合性高胆红素血症是临床常见的胆红素代谢异常,由于缺乏特异性的体征和病理改变,很难得到临床明确诊断。基因水平的检测可以为因葡萄糖醛酸转移酶基因缺陷造成该酶活性下降或缺失而导致的先天性非结合性高胆红素血症提供确诊依据,而在基因水平治疗先天性非结合性高胆红素血症也已取得很大进展。对目前先天性胆红素代谢异常的分子遗传学基础、分子生物学检测方法、常用治疗手段以及基因治疗进展进行了综述。Hereditary non conjugate bilirubinemia is a common abnormality of bilirubine metabolism. Because the lack of characteristic symptom and pathological changes, it＇s hard to diagnose the disease. Detection of the defection on glucuronyl transferase gene on a molecular level provides the evidence to ascertain the diagnosis, and gene therapy of the disease had achieved great effect. The progress on hereditary foundation, molecular diagnosis, therapy available and genetic therapy of hereditary non conjugate bilirubinemia were reviewed.

关 键 词：非结合性高胆红素血症 分子诊断 基因治疗 

分 类 号：R394[医药卫生—医学遗传学]