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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 investigate the relationship between hypertriglyceridemia and lipoprotein lipase gene mutation. Methods One to nine follow-up hyperthyntia hypertriglyceridemia patients were screened by PCR-SSCP and DNA sequencing from exon 1 to exon 9, intron and 5 ’regulatory region of LPL gene. Results The patient was identified as a missense mutation of LPL exon 5Pro ~ (207) → Leu. A pedigree analysis of the whole family of probands confirmed that both probands and their fathers in the pedigree were hypertriglyceridemic and were both missense mutations of LPL exon 5Pro 207 → Leu. Conclusions This mutation is presumed to affect the formation of the active center of LPL molecules, thereby decreasing the catalytic activity and causing hypertriglyceridemia.