Delhanty J D, Parrington J M, Casey G, Attwood J, West L, Kirk D, Corney G
Ann Hum Genet. 1981 May;45(2):181-98. doi: 10.1111/j.1469-1809.1981.tb00320.x.
Fibroblast cultures from six unrelated Huntington's Disease (HD) patients and controls and one affected relative of an HD patient were used in studies of cell growth, DNA repair, sister chromatid exchange (SCE) and chromosome aberrations. There were no significant differences in background levels of SCEs or of chromosome aberrations between HD cultures and controls. Preliminary results using epidermal growth factor indicated that HD cells may have a lowered relative response to this polypeptide hormone. Cell growth studies showed no correlation between growth rate and HD. Increased cell saturation density was recorded in cell lines from four of the HD patients; the remaining three lines from affected individuals (two of them related) were indistinguishable from control cultures. This variation may reflect genetic heterogeneity in HD. An apparent deficiency in DNA repair capacity following UV irradiation in cultures from three HD patients was subsequently shown to be the result of the increased cell saturation densities in these cultures.
来自六名无亲缘关系的亨廷顿舞蹈症（HD）患者、对照者以及一名HD患者的患病亲属的成纤维细胞培养物被用于细胞生长、DNA修复、姐妹染色单体交换（SCE）和染色体畸变的研究。HD培养物与对照者之间，SCE的背景水平或染色体畸变并无显著差异。使用表皮生长因子的初步结果表明，HD细胞对这种多肽激素的相对反应可能较低。细胞生长研究显示生长速率与HD之间并无关联。在四名HD患者的细胞系中记录到细胞饱和密度增加；其余来自患病个体的三个细胞系（其中两个有亲缘关系）与对照培养物并无差异。这种差异可能反映了HD中的遗传异质性。随后表明，三名HD患者培养物在紫外线照射后DNA修复能力的明显缺陷是这些培养物中细胞饱和密度增加的结果。
