Jones G E, Witkowski J A
Hum Genet. 1983;63(3):232-7. doi: 10.1007/BF00284655.
The intercellular adhesiveness of skin fibroblasts from patients and carriers of Duchenne muscular dystrophy (DMD) and control subjects has been determined using couette viscometers. The values for 12 DMD patients (mean = 1.38, SEM = 0.1, n = 32) were significantly lower than for ten control subjects (mean = 3.17, SEM = 0.2, n = 22). According to the Lyon hypothesis, carriers of DMD should be mosaics of cells expressing the normal and DMD phenotypes, and their cultured skin fibroblasts should have intercellular adhesiveness intermediate between that for normal and DMD cells. Cells from three obligate heterozygotes and five individuals at high risk of being carriers had normal values (in both groups mean = 2.82) in contrast to artificial 1:1 mixtures of normal and DMD cells that had intermediate values (mean = 2.22, SEM = 0.2, n = 15). This unexpected finding is probably the result of "correction" of the DMD cells by normal gene product from the cells expressing the normal gene.
使用库埃特粘度计测定了杜兴氏肌营养不良症（DMD）患者、携带者以及对照受试者皮肤成纤维细胞的细胞间粘附性。12名DMD患者的值（平均值 = 1.38，标准误 = 0.1，n = 32）显著低于10名对照受试者的值（平均值 = 3.17，标准误 = 0.2，n = 22）。根据莱昂假说，DMD携带者应该是表达正常和DMD表型的细胞镶嵌体，并且他们培养的皮肤成纤维细胞的细胞间粘附性应该介于正常细胞和DMD细胞之间。与正常细胞和DMD细胞按1:1人工混合后的值（平均值 = 2.22，标准误 = 0.2，n = 15）不同，三名肯定杂合子和五名高风险携带者个体的细胞值正常（两组平均值均为2.82）。这一意外发现可能是表达正常基因的细胞产生的正常基因产物对DMD细胞进行“校正”的结果。
