Horsthemke B, Dunning A, Humphries S
J Med Genet. 1987 Mar;24(3):144-7. doi: 10.1136/jmg.24.3.144.
DNA samples from 70 unrelated UK patients with heterozygous familial hypercholesterolaemia were screened by Southern blot hybridisation with a 5' fragment of the human low density lipoprotein (LDL) receptor cDNA. In the majority of cases, the restriction fragment pattern of the LDL receptor gene was indistinguishable from that observed in normal subjects. However, three patients were found to have a deletion of approximately 1 kb in the central portion of the gene. Mapping experiments indicated that in two patients a similar deletion has occurred that includes all or part of exon 5, and in the third patient a deletion has occurred that includes exon 7. Taking into account our previously described patient with a deletion in the 3' part of the gene, this means that in four out of 70 UK patients with familial hypercholesterolaemia (6%), the defect is caused by a detectable deletion of part of the coding portion of the low density lipoprotein receptor gene.
采用人低密度脂蛋白（LDL）受体cDNA的5'片段，通过Southern印迹杂交法对70名来自英国、无亲缘关系的杂合子家族性高胆固醇血症患者的DNA样本进行筛查。在大多数情况下，LDL受体基因的限制性片段模式与正常受试者中观察到的模式无法区分。然而，发现三名患者在该基因的中央部分有大约1 kb的缺失。定位实验表明，两名患者发生了类似的缺失，包括外显子5的全部或部分，第三名患者发生的缺失包括外显子7。考虑到我们之前描述的一名在该基因3'部分有缺失的患者，这意味着在70名英国家族性高胆固醇血症患者中，有4名（6%）的缺陷是由低密度脂蛋白受体基因编码部分的可检测缺失引起的。
