Quantitation of fibrillin immunofluorescence in fibroblast cultures in the Marfan syndrome.
Quantitation of fibrillin immunofluorescence in fibroblast cultures in the Marfan syndrome.
复制标题
马凡综合征成纤维细胞培养物中原纤维蛋白免疫荧光的定量。
DOI：
10.1111/j.1399-0004.1995.tb03947.x
复制
发表时间：
1995
影响因子：
3.5
通讯作者：
Godfrey,M
中科院分区：
文献类型：
--
作者：
Schaefer,GB;Godfrey,M
马凡综合征(MFS)是一种遗传性结缔组织疾病，表现为骨骼、眼和心血管系统的缺陷。MFS的诊断以临床表现为依据。目前还没有实验室测试来确定这种疾病的具体情况。纤维蛋白是一种弹性蛋白相关的微纤维糖蛋白，它的缺陷现在被认为是导致MFS多变性和多效性表现的原因。皮肤切片和真皮成纤维细胞培养的免疫荧光研究首次显示了这种联系。大多数明确的Maffan综合征病例显示纤维蛋白免疫荧光明显减少。对临床结果提示可能诊断为马凡综合征的患者进行检查的前景，刺激了我们尝试免疫荧光定量。在这里描述的研究中，我们使用计算机增强图像分析来建立真皮成纤维细胞培养中纤维蛋白免疫荧光的“正常”和“异常”(马凡)参数。来自对照组的荧光定量显示中位数为21%，而MFS患者的纤维蛋白荧光中值为6%，可信区间为15%。这些发现对P<；0.01具有统计学意义。希望这些分析能成为临床诊断MFS的有用的辅助手段。
The Marfan syndrome (MFS) is a heritable connective tissue disorder manifested by defects in the skeletal, ocular, and cardiovascular systems. Diagnosis of MFS is based on clinical findings. At present there are no laboratory tests for specific determination of this disorder. Defects in fibrillin, an elastin‐associated microfibrillar glycoprotein, are now known to cause the variable and pleiotropic manifestations of MFS. Immunofluorescence studies of skin sections and dermal fibroblast cultures were the first to show this association. Most unequivocal cases of the Maffan syndrome exhibited an apparent reduction in fibrillin immunofluorescence. The prospect of examining patients whose clinical findings suggest a possible diagnosis of the Marfan syndrome has stimulated us to attempt quantitation of immunofluorescence. In the study described here we used computer‐enhanced image analysis to establish “normal” and “abnormal” (Marfan) parameters of fibrillin immunofluorescence in dermal fibroblast cultures. Quantitation of fluorescence from control individuals showed a median of 21%, while the median fibrillin fluorescence in MFS patients was 6% with a confidence interval of 15%. These findings were statistically significant to p<0.01. It is hoped that these analyses may become a useful adjunct in the clinical diagnosis of MFS.