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由于分子生物学和分子遗传学的进步,与脂质代谢途径有关的截脂蛋白、脂蛋白受体、酶、脂脂转运蛋白的基因及它们在染色体上的位置也已明瞭。载脂蛋白的缺损可引起低脂蛋白血症,脂蛋白受体及其配体(apoB和E)的异常或酶缺损。均能引起高脂血症。本文仪就LDL受体和作为其配体的apoB异常症的分子生物学和分子基因学加以简介。1.家族性高胆固醇血症(FH) (1)FH的临床纯合子性FH为10O万人中才有1人的少见疾患,而杂合子性FH则约500人中就有1人。作者共观察了纯合子FH14例,杂合子FH1300例。
Due to advances in molecular biology and molecular genetics, the genes for the lipoprotein lipoprotein receptor, lipase transporter and lipoprotein transporters involved in the lipid metabolism pathways have also been shown to be well known on chromosomes. Apolipoprotein deficiency can cause hypoproteinemia, abnormalities in lipoprotein receptor and its ligands (apoB and E), or enzyme deficiency. Can cause hyperlipidemia. This article describes the molecular biology and molecular genetics of LDL receptors and apoB abnormalities as their ligands. 1. Familial hypercholesterolemia (FH) (1) The clinical homozygote FH of FH is a rare condition in which only 1 in 10 million people have a single disease, while heterozygous FH has about 1 in about 500 people. The authors observed a total of 14 cases of homozygous FH, heterozygous FH1300 cases.