家族性低β脂蛋白血症中的供体剪接突变（665 + 1 G_T），未检测到载脂蛋白B截短。
Donor splice mutation (665 + 1 G_T) in familial hypobetalipoproteinemia with no detectable apoB truncation.
作者信息
Pulai J I, Zakeri H, Kwok P Y, Kim J H, Wu J, Schonfeld G
机构信息
Division of Atherosclerosis, Nutrition and Lipid Research, Washington University School of Medicine, St. Louis, Missouri 63110, USA.
出版信息
Am J Med Genet. 1998 Nov 16;80(3):218-20.
We report a 49-member four-generation kindred in which 11 members express familial hypobetalipoproteinemia (FHBL). In other kindreds, various truncated apoB species cosegregate with the FHBL phenotype. In contrast, no truncated apoB proteins were found by immunoblotting of plasma samples in this kindred. Previous linkage analysis showed strong linkage of FHBL to apoB markers. Nucleotide sequence analysis demonstrated a 665 + 1 G_T transition in the splice donor site of intron 5. This probably alters the accuracy and efficiency of mRNA splicing leading to the extremely low apoB levels in plasma. In addition, we detected four novel polymorphisms in the apoB gene.
我们报告了一个四代家族，其中49名成员中有11名表现出家族性低β脂蛋白血症（FHBL）。在其他家族中，各种截短的载脂蛋白B（apoB）种类与FHBL表型共分离。相比之下，通过对该家族血浆样本进行免疫印迹未发现截短的apoB蛋白。先前的连锁分析表明FHBL与apoB标记物有很强的连锁关系。核苷酸序列分析显示内含子5的剪接供体位点存在665 + 1 G_T转换。这可能会改变mRNA剪接的准确性和效率，导致血浆中apoB水平极低。此外，我们在apoB基因中检测到四个新的多态性。
Zotero 插件