Glueck C J, Fallat R W, Millett F, Gartside P, Elston R C, Go R C
Metabolism. 1975 Nov;24(11):1243-65. doi: 10.1016/0026-0495(75)90063-3.
A newly recognized familial hyperlipoproteinemia, familial hyper-alpha-lipoproteinemia, is described in 18 kindreds. Affected probands and relatives had distinctive elevations of alpha-lipoprotein cholesterol (C-HDL), slight elevations of total cholesterol, no elevation of LDL and VLDL cholesterol, and normal triglyceride levels. The proband and at least one additional first degree relative had distinctive elevations of C-HDL in 16 of 18 kindreds. Simple segregation analysis involving 84 offspring of 22 hyper-alpha X normal-alpha matings from these 16 kindreds revealed a ratio of hyper-alpha to normal of 37:47, a ratio not significantly different from 1:1 (chi 2(1) = 1.2), the ratio consistent with autosomal dominant transmission. Despite the suggestion of a major gene effect by this analysis, evaluation of the C-HDL distribution in kindred members failed to reveal bimodality, and familial correlation analysis revealed no parent-offspring correlation. The present data suggest that an environmental cause common to sibships is possibly important in causing the disorder. Longevity analysis demonstrated elongation of life expectancy for kindred members, and there was an apparent rarity of premature cardiac events.
本文描述了18个家族中一种新发现的家族性高脂蛋白血症——家族性高α脂蛋白血症。受影响的先证者和亲属的α脂蛋白胆固醇（C-HDL）有显著升高，总胆固醇略有升高，低密度脂蛋白和极低密度脂蛋白胆固醇无升高，甘油三酯水平正常。在18个家族中的16个家族中，先证者和至少一名其他一级亲属的C-HDL有显著升高。对这16个家族中22对高α×正常α交配产生的84名后代进行的简单分离分析显示，高α与正常的比例为37:47，该比例与1:1无显著差异（χ2(1)=1.2），该比例符合常染色体显性遗传。尽管该分析表明存在主要基因效应，但对家族成员中C-HDL分布的评估未发现双峰性，家族相关性分析也未发现亲子相关性。目前的数据表明，同胞中常见的环境因素可能对导致该疾病很重要。寿命分析表明家族成员的预期寿命延长，且明显很少发生早发性心脏事件。
