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近年来由于分子生物学技术的进步,对脂质代谢障碍的原因,正在基因水平得到阐明。脂质的异常就是制约它的酶、载脂蛋白或受体蛋白的异常,即构成各该蛋白质的氨基酸的异常,而氨基酸是由基因决定的,所以多数脂质代谢障碍原因的遗传背景,能够从DNA的异常上得到了解。脂蛋白脂酶(LPL)缺损症和卵磷酯胆固醇酰基转移酶(LCAT)缺损症是伴有高甘油三酯血症和低HDL血症的遗传性疾患。近2年来世界上对此类患者的基因分析研究,使得其基因水平的异常渐得到澄清。本文报告的是此2种缺损症的日本患者其因分析结果。一、家族性LPL缺损症患者是从乳儿期至幼儿期反复发作腹痛、高乳糜
In recent years due to advances in molecular biology techniques, the reasons for lipid metabolism disorders, are gene levels are elucidated. Abnormal lipid is restricting its enzyme, apolipoprotein or receptor protein abnormalities, which constitute the amino acid abnormalities of the protein, and amino acids are genetically determined, so most of the genetic background of lipid metabolism disorders can be Learn from the abnormalities of DNA. Lipoprotein lipase (LPL) deficiency and lecithin cholesterol acyltransferase (LCAT) deficiency are genetic disorders with hypertriglyceridemia and hypo-HDL. The past two years in the world of genetic analysis of such patients, making the exception of its genetic level gradually be clarified. This article reports the results of these analyzes in Japanese patients with these two deformities. First, patients with familial LPL deficiency recurrent abdominal pain from infancy to early childhood, high chyme