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本文利用Southern印迹杂交筛查了25例患家族性高胆固醇血症(FH)丹麦病人DNA样本以检出LDL受体基因的显著改变。其中3例FH病人发现有DNA缺失;2例缺失半胱氨酸富含区,此区域含LDL受体配体结合区域,第3例缺失受体的胞质部位编码区域。干扰低密度脂蛋白(LDL)受体功能的各种突变是构成FH的基础。这种疾病发病
In this paper, DNA samples from 25 Danish patients with familial hypercholesterolemia (FH) were screened by Southern blotting to detect significant changes in the LDL receptor gene. Among them, 3 cases of FH patients were found to have DNA deletion; 2 cases were lack of cysteine-rich region, which contained LDL receptor ligand binding region, and the third case lacked the encoding region of cytosolic region of receptor. Various mutations that interfere with the function of low density lipoprotein (LDL) receptors are the basis for the formation of FH. The incidence of this disease