卵磷脂：胆固醇酰基转移酶缺乏症：致病基因突变和共遗传蛋白质多态性的鉴定
Lecithin:cholesterol acyltransferase deficiency: identification of a causative gene mutation and a co-inherited protein polymorphism.
作者信息
Hill J S, O K, Wang X, Pritchard P H
机构信息
University Hospital Lipid Research Group, Department of Pathology, University of British Columbia, Vancouver, Canada.
出版信息
Biochim Biophys Acta. 1993 Jun 19;1181(3):321-3. doi: 10.1016/0925-4439(93)90039-4.
We have recreated and expressed two known natural mutations within the LCAT gene which were reported on both alleles in a single case of familial LCAT deficiency. We demonstrate that the Ala-93-->Thr mutation is responsible for the biochemical defect while the Arg-158-->Cys mutation is a co-inherited natural polymorphism of LCAT which results in normal enzyme function.
我们重现并表达了卵磷脂胆固醇酰基转移酶（LCAT）基因内的两种已知自然突变，这两种突变在一例家族性LCAT缺乏症的两个等位基因上均有报道。我们证明，丙氨酸93位突变为苏氨酸的突变是导致生化缺陷的原因，而精氨酸158位突变为半胱氨酸的突变是LCAT的一种共同遗传的自然多态性，其酶功能正常。
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