Casalone R, Granata P, Minelli E, Righi R, Meroni E, Mazzola D, Sammarelli G, Baratelli E, Broggini M
Biologia Generale e Genetica Medica, Università di Pavia, Italy.
Ann Genet. 1995;38(3):145-50.
The authors have analyzed cytogenetically 28 cultured lymphocytes from females with Diffuse Scleroderma and 28 female controls between 30 and 70 years of age. Recurrent chromosome abnormalities were +8, +X, -X, and the PCD(X) phenomenon. Triplo X cells were significatively more frequent in patients than in controls. The incidence of +X and PCD(X) was significatively higher in the patients between 30 and 50 years of age, while the frequency of -X cells was higher in controls than in patients. None of these chromosome changes was correlated with the presence of anticentromere antibodies (ACA) in the patients' serum. Random structural chromosome abnormalities were also observed in the patients, but no break point clustering was observed. The incidence of chromosome breaks was significatively higher in patients than in controls. These data suggest a general tendency of females with Scleroderma to develop X polisomies and +X and the PCD(X) phenomenon may be considered Scleroderma related in younger patients.
作者对28例30至70岁弥漫性硬皮病女性患者及28例女性对照者的培养淋巴细胞进行了细胞遗传学分析。反复出现的染色体异常为+8、+X、-X以及PCD(X)现象。三倍体X细胞在患者中显著多于对照组。+X和PCD(X)的发生率在30至50岁患者中显著更高，而-X细胞在对照组中的频率高于患者。这些染色体变化均与患者血清中的抗着丝粒抗体(ACA)无关。患者中还观察到随机的染色体结构异常，但未观察到断点聚集。患者的染色体断裂发生率显著高于对照组。这些数据表明硬皮病女性存在发生X多体性的总体趋势，并且+X和PCD(X)现象在年轻患者中可能与硬皮病相关。
