Navajas M, Laurent A M, Moreel J F, Ragab A, Cambou J P, Cuny G, Cambien F, Roizès G
CNRS UPR 8402, Institut de Biologie, Montpellier, France.
Hum Genet. 1990 Nov;86(1):91-3. doi: 10.1007/BF00205183.
The apolipoprotein B gene is subject to mutations that may be important in coronary heart diseases. We have used polymerase chain reaction and denaturing gradient gel electrophoresis to characterize a single nucleotide substitution in the apolipoprotein B gene. This mutation affects amino acid 4311 of the protein and converts asparagine to serine. It was found in 24% of the 81 unrelated individuals analyzed. Moreover, another mutation was detected by sequencing in a single individual.
载脂蛋白B基因容易发生突变，这些突变可能在冠心病中具有重要意义。我们使用聚合酶链反应和变性梯度凝胶电泳来鉴定载脂蛋白B基因中的一个单核苷酸替换。这种突变影响该蛋白质的第4311位氨基酸，将天冬酰胺转变为丝氨酸。在81名无亲缘关系的被分析个体中，有24%发现了这种突变。此外，通过测序在一名个体中检测到另一种突变。
