Leren T P, Bakken K S, Hoel V, Hjermann I, Berg K
Department of Medical Genetics, Ullevål University Hospital, Oslo, Norway.
Hum Genet. 1998 Jan;102(1):44-9. doi: 10.1007/s004390050651.
In this study we have performed analyses of apolipoprotein (apo) B at both the protein and gene level to search for mutations of the apoB gene causing hypocholesterolemia among 71 Norwegian subjects. None of the subjects possessed apoB of abnormal molecular weight as determined by SDS-polyacrylamide gel electrophoresis of lipoproteins in the 1.025 g/ml-1.063 g/ml density range. Screening for mutations in exon 26 of the apoB gene by analysis of single-strand conformation polymorphisms followed by DNA sequencing, revealed seven point mutations of which one is a novel mutation. Five of the mutations were missense mutations and two were sense mutations. A group of 143 hypercholesterolemic, nonfamilial hypercholesterolemia subjects served as a control group for comparisons of gene frequencies. The only statistically significant finding was that mutation 8344T at codon 2712 was more common among those with hypocholesterolemia. This finding is in accord with previous reports.
在本研究中，我们对71名挪威受试者进行了载脂蛋白（apo）B在蛋白质和基因水平的分析，以寻找导致低胆固醇血症的apoB基因突变。通过对密度范围在1.025 g/ml - 1.063 g/ml的脂蛋白进行SDS-聚丙烯酰胺凝胶电泳测定，没有受试者拥有异常分子量的apoB。通过单链构象多态性分析随后进行DNA测序来筛查apoB基因第26外显子的突变，发现了7个点突变，其中1个是新突变。5个突变是错义突变，2个是同义突变。一组143名高胆固醇血症、非家族性高胆固醇血症受试者作为对照组用于基因频率比较。唯一具有统计学意义的发现是密码子2712处的8344T突变在低胆固醇血症患者中更常见。这一发现与先前的报告一致。
