Langlois S, Kastelein J J, Hayden M R
Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
Am J Hum Genet. 1988 Jul;43(1):60-8.
Two hundred thirty-four unrelated heterozygotes for familial hypercholesterolemia (FH) were screened to detect major rearrangements in the low-density-lipoprotein (LDL) receptor gene. Total genomic DNA was analyzed by Southern blot hybridization to probes encompassing exons 1-18 of the LDL receptor gene. Six different mutations were detected and characterized by the use of exon-specific probes and detailed restriction mapping. Each mutation is unique and suggests that molecular heterogeneity underlies the molecular pathology of FH. There appear to be preferential sites within the LDL receptor gene for major rearrangements resulting in deletions.
对234名家族性高胆固醇血症（FH）的无关杂合子进行了筛查，以检测低密度脂蛋白（LDL）受体基因中的主要重排。通过Southern印迹杂交，用包含LDL受体基因第1至18外显子的探针分析了总基因组DNA。利用外显子特异性探针和详细的限制性图谱分析，检测并鉴定了6种不同的突变。每种突变都是独特的，这表明分子异质性是FH分子病理学的基础。在LDL受体基因内似乎存在导致缺失的主要重排的优先位点。
