脂蛋白脂肪酶Pro^(207)→Leu基因突变致高甘油三酯血症

Mutation of Lipoprotein Lipase Gene Pro^(207) Leu Result in Hypertriglyceridemia

目的探讨高甘油三酯血症与脂蛋白脂肪酶基因突变之间的内在联系。方法采用PCR-SSCP和DNA测序技术,对1例随访多年的高甘油三酯血症患者LPL基因第1～9个外显子、部分内含子和5′端调节区进行筛查。结果该患者经检测确定为LPL外显子5Pro^(207)→Leu错义突变。对先证者全家进行家系分析,证实家系中先证者及其父亲均为高甘油三酯血症患者,且均为LPL外显子5Pro^(207)→Leu错义突变。结论推测此突变影响了LPL分子的活性中心的形成,从而降低了催化活性,导致了高甘油三酯血症的发生。

Objective To explore the connection between hypertriglyceridemia and gene mutation of LPL. Methods Exon 1-9, some introns and 5' untranslated region of LPL were screened with PCR-SSCP and the PCR fragments of abnormal electrophoresis band were sequenced in a patient with hypertriglyceridemia. Results The patient was identified as heterozygote of C→T transition at position 875 in exon 5 of LPL resulting in Pro^(207)→Leu. The pedigree of the proband was analyzed and it was found that both the proband and her father had hypertriglyceridemia and had missense mutation in exon 5 of LPL resulting in Pro^(207)→Leu. Conclusion This mutation might disturb the emergence of LPL active center and thereby results in hypertriglyceridemia.