A study on the pathogeneses of hyperalphalipoproteinemia

在5例没有常见CETP突变的高脂蛋白血症患者中，研究了胆固醇酯转移蛋白（CETP）基因的罕见已知和未知突变。尽管每个患者的CETP活性都很低，但没有确定的基因突变。对大缺失或插入以及侧翼区域突变的进一步研究正在进行中。荧光法测定磷脂转移蛋白（PTP）活性。对PTP活性较低的高脂蛋白血症患者的PTP基因进行了测序，但未发现明确的突变。我们实验室正在建立更精确的PTP测定方法。采用荧光HDL和培养淋巴细胞荧光法研究了脂蛋白血症患者的HDL结合蛋白活性。高脂蛋白血症患者与正常患者无显著差异。在确定hdl结合蛋白缺乏症患者之前，将使用这种方法进行进一步筛查。

Rare Known mutations and unknown mutations in the cholesteryl ester transfer Protein (CETP) gene were searched in five patients with hyperalphalipoproteinemia without common CETP mutations. Inspite of the low CETP activity in each patient, no definite gene mutation was not identified. Further sutdies are ongoing for a large deletion or insertion and for a mutation in flanking regions.Phospholipid transfer protein (PTP) acitivity was measured by fluorometric assay.The PTP gene was sequenced in hyperalphalipoproteinemic patients with lower PTP activities, but no definite mutation was identified. More precise PTP assay is being established in our laboratory.HDL-binding protein activity was studied in alphalipoproteinemic patients by fluorometric assay using fluorescent HDL and cultured lymphocytes. No significant difference was observed in hyperalphalipoproteinemic patients from normals.Further screening using this method will be done until a patient with HDL-binding protein deficiency is identifed.