脂蛋白脂酶基因突变Pro207Leu致高乳糜微粒血症  

Mutation of lipoprotein lipase gene Pro207Leu resulting in hyperchylomicronemia

作　　者：穆云翔[1] 赵郁[1] 杨宇虹[1] 葛林[1] 刘新宇[1] 解用虹[1] 

机构地区：[1]天津医科大学生物化学教研室,300070

出　　处：《中华内分泌代谢杂志》2004年第3期241-242,共2页Chinese Journal of Endocrinology and Metabolism

基　　金：天津市自然科学基金资助课题 (0 3360 731 1 )

摘　　要：以PCR SSCP和DNA测序确定 1例 17岁女孩的脂蛋白脂酶 (LPL)基因为杂合子突变(Pro2 0 7Leu) 。A heterozygous mutation of lipoprotein lipase (LPL) (Pro207Leu) was identified in a 17-year-old girl with hyperchylomicronemia by PCR-SSCP and DNA sequencing. This mutation reduces the LPL catalytic activity and results in hyperchylomicronemia.

关 键 词：脂蛋白脂酶 基因突变 Pro207Leu 高乳糜微粒血症 

分 类 号：R589[医药卫生—内分泌]