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.

• 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) ,此突变降低了LPL的催化活性和引起高乳糜微粒血症