高甘油三酯血症患者脂蛋白脂肪酶基因检测意义

Significance of lipoprotein lipase gene in patients with hypertriglyceridemia

目的探讨脂蛋白脂肪酶(lipoprotein lipase,LPL)基因突变与高甘油三酯血症的相关性。方法采用Primer 5.0软件针对LPL基因分片段设计特异性引物。高甘油三脂血症患者12例,抽取外周静脉血提取基因组DNA,扩增LPL基因1～9号外显子及相邻部分内含子,进行核苷酸测序,并与LPL基因全序列进行比对分析。结果 12例患者中1例LPL基因第4外显子存在错义杂合突变;1例LPL基因第8外显子存在同义杂合突变;8例LPL基因第6内含子5端的几个位点处发生相同的碱基置换(1388+73T>G,1388+108G>A,1388+82C>A);2例患者未检出核苷酸变化。结论 LPL基因缺陷与高甘油三脂血症密切相关,LPL基因检测可用于临床上有遗传倾向的严重高甘油三脂血症患者的基因诊断。

Objective To study the correlation of lipoprotein lipase（LPL） gene mutation with hypertriglyceridemia （HTG）. Methods Primer 5.0 software was used to design the LPL gene fragments specific primers. Twelve patients with hypertriglyceridemia were collected peripheral blood to isolate DNA and amplify the LPL gene fragments including 1 to 9 exons of the LPL gene and of the nearby introns. The sequencing results were compared with the normal genome sequence of LPL gene. Results In these 12 patients with hypertriglyceridemia, one patient was found missense heterozygosis mutation in exon 4 of LPL gene, one was found the synonymous heterozygosis mutation in exon 8 of I.PL gene, 8 were found single base substitution in the similar sites of the intron of LPL gene（1388-73T〉G, 1388＋ 108G〉 A, 1388--82C〉 A）, and 2 patients were not found nucleotion change. Conclusion LPL gene mutation is closely correlated with hypertriglyceridemia. This LPL sequencing technique provides a reliable gene examination for the family heritable patients with hypertriglyceridemia.