Pessah M, Beucler I, Loux N, Navarro J, Guillerd X, Dulac O, Lequeux J, Junien C, Infante R
INSERM 1 U.55, Hôpital St-Antoine, Paris.
Biochem Biophys Res Commun. 1993 Jan 15;190(1):97-103. doi: 10.1006/bbrc.1993.1016.
Abetalipoproteinemia is a recessive genetic disorder of unknown origin, which is characterized by absence of circulating apo-B-containing lipoproteins, malabsorption of intestinal fat, and degenerative neurological and retinal lesions. In this study, four families were analysed for genetic linkage between the abetalipoproteinemia phenotype and the apo-B genotype determined from polymorphisms of XbaI, MsPI, EcoRI and PvuII restriction sites and that of the 3'-minisatellite of the apo-B gene. The results definitively exclude mutation of the apo-B gene as a causal factor of abetalipoproteinemia in three families. Consanguinity of the parents in the fourth family made genotyping less conclusive.
无β脂蛋白血症是一种病因不明的隐性遗传病，其特征为循环中含载脂蛋白B的脂蛋白缺乏、肠道脂肪吸收不良以及神经和视网膜退行性病变。在本研究中，对四个家族进行了分析，以研究无β脂蛋白血症表型与通过XbaI、MsPI、EcoRI和PvuII限制性酶切位点多态性及载脂蛋白B基因3'-微卫星多态性确定的载脂蛋白B基因型之间的遗传连锁关系。结果明确排除了三个家族中载脂蛋白B基因突变是无β脂蛋白血症病因的可能性。第四家族父母的近亲关系使得基因分型的结论性较差。
