Powell F C, Schroeter A L, Winkelmann R K, Dewald G W
Acta Derm Venereol. 1986;66(5):414-8.
The constitutional karyotype and frequency of sporadic chromosome abnormalities in peripheral blood leukocytes from 30 scleroderma patients and 15 normal controls were studied. Fifteen of the scleroderma patients were positive for the anticentromere antibody (ACA) and 15 were negative. The constitutional karyotype of all patients and controls were normal. No statistically significant difference in sporadic chromosome abnormalities was detected among the two groups of scleroderma patients compared with the control group. The possibility of clastogenic activity in serum from scleroderma patients was investigated by culturing lymphocytes from three normal individuals in medium enriched with serum from either a normal control, an ACA-negative scleroderma patient or an ACA-positive scleroderma patient. There was no statistically significant difference in the frequency of sporadic chromosomal abnormalities among the cells in these experiments. The results of this study suggest that, contrary to previously reported studies, the frequency of sporadic chromosome abnormalities is not increased significantly in scleroderma patients. In addition, although the anticentromere antibody is reactive with chromosomal material, patients with this antibody do not have increased chromosome breakage or aneuploidy, and the antibody does not induce chromosomal changes in vitro.
研究了30例硬皮病患者和15例正常对照外周血白细胞的染色体核型及散发性染色体异常的频率。15例硬皮病患者抗着丝点抗体（ACA）呈阳性，15例呈阴性。所有患者和对照的染色体核型均正常。与对照组相比，两组硬皮病患者在散发性染色体异常方面未检测到统计学上的显著差异。通过在富含正常对照、ACA阴性硬皮病患者或ACA阳性硬皮病患者血清的培养基中培养三名正常个体的淋巴细胞，研究了硬皮病患者血清中的致断裂活性。在这些实验中，细胞中散发性染色体异常的频率没有统计学上的显著差异。本研究结果表明，与先前报道的研究相反，硬皮病患者散发性染色体异常的频率没有显著增加。此外，尽管抗着丝点抗体与染色体物质有反应，但携带该抗体的患者染色体断裂或非整倍体并未增加，且该抗体在体外不会诱导染色体变化。
