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目的报告1例经单个细胞凝胶电泳(SCGE)证实存在 DNA 断裂的范可尼贫血(FA)患儿,探讨 SCGE 作为 FA 实验诊断依据之一的可行性。临床资料 4岁10个月患儿,双侧拇指畸形、隐睾、右侧小睑裂和右眼内斜视等多种先天异常。自3岁2个月始,发现血小板减少和贫血。确诊为FA。方法和结果 SCGE 分析患儿及其父母外周血单个核细胞 DNA 断裂。患儿及其父母外周血单个核细胞中,彗尾阳性细胞的比例分别为100%、90%和52%,而正常同龄对照的分别仅为2%和5%。患儿及其父母的 SCGE 各参数均明显高于对照(P<0.01)。患者有微核细胞高达6.74%,而正常仅为0.40%。结论 SCGE 证实该 FA 患儿存在 DNA 断裂,提示 SCGE 可以作为 FA 实验诊断依据之一。
Objective To report a case of Fanconi anemia (FA) confirmed by single cell gel electrophoresis (SCGE) in DNA fragmentation and to explore the feasibility of using SCGE as a basis for the diagnosis of FA. Clinical data 4-year-old 10-month-old children, bilateral thumb deformities, cryptorchidism, right palpebral fissure and right eye esotropia and other congenital anomalies. Thrombocytopenia and anemia have been found since the age of 3 years and 2 months. Confirmed as FA. Methods and Results DNA fragmentation of peripheral blood mononuclear cells in children and their parents was analyzed by SCGE. The percentage of comet-positive cells in peripheral blood mononuclear cells of children and their parents were 100%, 90% and 52%, respectively, compared to only 2% and 5% of normal controls, respectively. The parameters of SCGE in children and their parents were significantly higher than those in controls (P <0.01). Patients with micronucleated cells up to 6.74%, while normal was only 0.40%. Conclusion SCGE confirmed the existence of DNA fragmentation in children with FA, suggesting that SCGE can be used as a basis for the diagnosis of FA.