Coulthard S, Chase A, Pickard J, Goldman J, Dokal I
Department of Haematology, Imperial College School of Medicine and Hammersmith Hospital, London.
Br J Haematol. 1998 Sep;102(5):1162-4. doi: 10.1046/j.1365-2141.1998.00893.x.
Dyskeratosis congenita (DC) is a rare inherited disorder characterized by reticulate skin pigmentation, nail dystrophy and mucosal leucoplakia. Bone marrow failure occurs in the majority of cases and there is a predisposition to malignancy. Following conflicting reports of increased spontaneous and induced chromosomal breakage in DC lymphocytes, we examined chromosomal breakage with and without clastogen treatment in 10 DC patients from six different families. Peripheral blood cultures were stimulated with phytohaemagglutinin and treated with three clastogenic agents and gamma-irradiation. There was no significant difference in the chromosomal breakage in DC lymphocytes with or without exposure to bleomycin, DEB, MMC or gamma-irradiation. DC can therefore be distinguished from Fanconi's anaemia in which lymphocytes show increased spontaneous and clastogen-induced chromosomal breakage.
先天性角化不良（DC）是一种罕见的遗传性疾病，其特征为网状皮肤色素沉着、指甲营养不良和黏膜白斑。大多数病例会出现骨髓衰竭，且有发生恶性肿瘤的倾向。在关于DC淋巴细胞自发和诱导性染色体断裂增加的报道相互矛盾之后，我们对来自六个不同家庭的10例DC患者在有或无致裂剂处理的情况下进行了染色体断裂检测。用植物血凝素刺激外周血培养物，并用三种致裂剂和γ射线进行处理。DC淋巴细胞在暴露于博来霉素、丝裂霉素、丝裂霉素C或γ射线与否的情况下，其染色体断裂情况没有显著差异。因此，DC可与范可尼贫血相区分，后者淋巴细胞的自发和致裂剂诱导的染色体断裂会增加。
