一项针对四名无亲缘关系的家族性卵磷脂：胆固醇酰基转移酶缺乏症患者的卵磷脂：胆固醇酰基转移酶基因结构的研究。

A study of the structure of the gene for lecithin: cholesterol acyltransferase in four unrelated individuals with familial lecithin: cholesterol acyltransferase deficiency.

Humphries S E, Chaves M E, Tata F, Lima V L, Owen J S, Borysiewicz L K, Catapano A, Vergani C, Gjone E, Clemens M R

Department of Biochemistry, St Mary's Hospital Medical School, London.

Clin Sci (Lond). 1988 Jan;74(1):91-6. doi: 10.1042/cs0740091.

Abstract

We have used polyclonal antibodies and a complementary DNA clone for human lecithin:cholesterol acyltransferase (LCAT) to study LCAT protein and the structure of the LCAT gene, respectively, in patients with familial LCAT deficiency from Norway, Ireland, Germany and Italy. 2. The patients had low levels of non-functional LCAT protein in their serum as measured by rocket immunoelectrophoresis; its mol. wt. of approximately 68,000 was identical with that of LCAT in normal plasma, as judged by immunoblotting. 3. Enzymatic digestion of DNA samples from the patients produced LCAT gene fragments which were indistinguishable from those found in normal individuals. 4. We conclude that LCAT deficiency in these patients is not caused by a large deletion or rearrangement of the LCAT gene sequences.

摘要

我们使用了多克隆抗体和人卵磷脂：胆固醇酰基转移酶（LCAT）的互补DNA克隆，分别对来自挪威、爱尔兰、德国和意大利的家族性LCAT缺乏症患者的LCAT蛋白和LCAT基因结构进行研究。2. 通过火箭免疫电泳测定，这些患者血清中无功能的LCAT蛋白水平较低；通过免疫印迹法判断，其分子量约为68,000，与正常血浆中的LCAT相同。3. 对患者的DNA样本进行酶切产生的LCAT基因片段与正常个体中发现的片段无法区分。4. 我们得出结论，这些患者的LCAT缺乏症不是由LCAT基因序列的大片段缺失或重排引起的。