Jap Tjin-Shing, Jenq Shwu-Fen, Wu Yi-Chi, Chiu Chih-Yang, Cheng Hon-Mei
Section of Biochemistry, Department of Pathology and Laboratory Medicine, Veterans General Hospital-Taipei, Taiwan, ROC.
Pancreas. 2003 Aug;27(2):122-6. doi: 10.1097/00006676-200308000-00003.
Familial lipoprotein lipase (LPL) deficiency is inherited as an autosomal recessive trait and is characterized by chylomicronemia, eruptive xanthoma, hepatosplenomegaly, and recurrent pancreatitis.
Two unrelated Chinese of Han descent with hypertriglyceridemia were enrolled in this study, and another six Han Chinese with no family history of hypertriglyceridemia and diabetes were recruited as normal controls. LPL activity was determined with use of an artificial substrate of 14C-trioleine and Arabic gum, and release of 14C free fatty acid was determined by the liquid-liquid partitioning system. LPL mass was measured by enzyme immunoassay. Genomic DNA was extracted from EDTA-preserved whole blood, and PCR was used to amplify the nine coding exons and the minimal promoter of the LPL gene.
DNA sequence analysis revealed that mutations were identified in both patients; one patient had compound heterozygous mutations in codon 252 [CTG(Leu) --> GTG(Val)] and in codon 264 [TGC(Cys) --> TGa(Ter)] of exon 6, and the other patient had homozygous L252V mutation. These subjects had > or =90% reduction in LPL mass and > or =60% reduction in LPL activity.
The mutated and truncated LPLs caused hypertriglyceridemia in these patients in Taiwan with hypertriglyceridemia and pancreatitis.
家族性脂蛋白脂肪酶（LPL）缺乏症以常染色体隐性性状遗传，其特征为乳糜微粒血症、疹性黄瘤、肝脾肿大和复发性胰腺炎。
本研究纳入了两名无亲缘关系的汉族高甘油三酯血症患者，并招募了另外六名无高甘油三酯血症和糖尿病家族史的汉族人作为正常对照。使用14C-三油精和阿拉伯胶的人工底物测定LPL活性，通过液-液分配系统测定14C游离脂肪酸的释放。采用酶免疫测定法测量LPL质量。从EDTA抗凝全血中提取基因组DNA，使用PCR扩增LPL基因的9个编码外显子和最小启动子。
DNA序列分析显示两名患者均存在突变；一名患者在第6外显子的密码子252[CTG（亮氨酸）→GTG（缬氨酸）]和密码子264[TGC（半胱氨酸）→TGa（终止）]处存在复合杂合突变，另一名患者存在纯合的L252V突变。这些受试者的LPL质量降低≥90%，LPL活性降低≥60%。
在台湾这些患有高甘油三酯血症和胰腺炎的患者中，突变和截短的LPL导致了高甘油三酯血症。
