Avoustin P, Mostachi H, Perret B, Cambou J P, Cambien F, de Préval C
INSERM U100 CHU Purpan, Toulouse, France.
Hum Genet. 1992 Dec;90(4):460-3. doi: 10.1007/BF00220478.
The nucleotide sequence of the putative binding site of ApoB-100 was studied in Hypercholesterolemic IIa patients and controls from the Toulouse area. Only one patient possesses the 3,500 mutation, which is responsible for defective familial hypercholesterolemia. The other individuals (including 39 patients and 14 controls) display the same nucleotide sequence although four nucleotide substitutions have been described in this region. This homogeneity of the Toulouse population in the putative binding site of ApoB-100 is discussed.
对图卢兹地区高胆固醇血症IIa型患者及对照人群中载脂蛋白B-100假定结合位点的核苷酸序列进行了研究。只有一名患者存在导致家族性高胆固醇血症缺陷的3500突变。其他个体(包括39名患者和14名对照)尽管在该区域已描述有四处核苷酸替换,但显示出相同的核苷酸序列。本文对图卢兹人群在载脂蛋白B-100假定结合位点的这种同质性进行了讨论。