The apolipoprotein C-II variant apoC-IILys19-->Thr is not associated with dyslipidemia in an affected kindred.
The apolipoprotein C-II variant apoC-IILys19-->Thr is not associated with dyslipidemia in an affected kindred.
复制标题
载脂蛋白 C-II 变体 apoC-IILys19-->Thr 与受影响家族的血脂异常无关。
DOI：
10.1111/j.1399-0004.1994.tb04033.x
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发表时间：
1994
影响因子：
3.5
通讯作者：
Kane,JP
中科院分区：
文献类型：
--
作者：
Zysow,BR;Pullinger,CR;Hennessy,LK;FareseJr,RV;Ghassemzadeh,M;Kane,JP
载脂蛋白C-II(apoC-II)突变是一种罕见的载脂蛋白C-II(apoC-II)突变，→Thr，又称apoC-II-v，与高脂蛋白血症有关。从脂类诊所的筛查中，我们确定了三个没有血缘关系的个体，他们都有apoC-IILys 19→突变。在一名先证者的八名家庭成员中，我们发现了另外四名受影响的人。在这个家族中，没有一个患者是血脂异常的，在受影响的和未受影响的家庭成员之间，血脂水平也没有差别。因此，我们得出结论，这种载脂蛋白变体本身的存在对脂蛋白水平没有影响。此外，载脂蛋白E(ApoE)亚型apoE4对这种类型的脂蛋白水平没有协同作用，这与apoE4与另一个apoC-II突变体(apoC-IIToronto)相互作用的观察结果相反。导致apoC-→19突变的单核苷酸替代引入了一个以前未被识别的限制位点(对于MAE III)，这使得筛查变得容易。
The rare apolipoprotein C‐II (apoC‐II) mutation, apoC‐IILys19→Thr, also known as apoC‐II‐v, has been found previously in association with hyperlipoproteinemia. From a lipid clinic screening we identified three unrelated individuals who had the apoC‐IILys19→Thrmutation. Among eight family members of one proband, we have found another four who were affected. None of the inviduals in this kindred is dyslipidemic and there is no difference in lipid levels between affected and unaffected family members. Therefore, we conclude that the presence of this apolipoprotein variant by itself has no effect on lipoprotein levels. In addition, the apolipoprotein E (apoE) isoform, apoE4 does not have a synergistic effect on lipoprotein levels in this kindred, in contrast to observations on the interaction of apoE4 with another apoC‐II mutant (apoC‐IIToronto). The single nucleotide substitution that causes the apoC‐IILys19→Thrvariant introduces a previously unrecognized restriction site (for Mae III), that provides for easy screening.