中文摘要：

目的评价单细胞凝胶电泳（SCGE，又称彗星试验）试验在范可尼贫血（FA）诊断中的意义及其与丝裂霉素C诱导的染色体断裂试验之间的相关性。方法选取2007年1月-2011年6月在中国医学科学院血液病医院儿童血液病诊疗中心就诊的248例血细胞减少患儿的骨髓（或外周血）单个核细胞进行丝裂霉素c及SCGE试验。分别分析两种试验的检测结果，并将两种试验方法的结果进行相关性分析。通过对SCGE试验各个指标的受试者T作特征（ROC）曲线下面积的比较，寻找最适合的SCGE参数。结果（1）248例患儿男122例，女126例，男女比例0．97：1。中位年龄5岁（0．2—15岁）。17例诊断为FA，231例为非FA。（2）在丝裂霉素C为80ng／ml浓度下染色体畸变数目FA组为[（32．2±4．8）％]，高于非FA组[（19．9±3．0）％]和正常对照组[（21．6±4．8）％]，组问差异有统计学意义（F=95．678，P〈0．01）。（3）SCGE试验结果中，将17例FA患儿与231例非FA患儿各参数比较，两组患儿间均有统计学差异（P=0．000）。（4）将单细胞凝胶电泳各分析参数与丝裂霉素C的不同浓度下染色体畸变结果进行相关性分析。SCGE各参数指标与丝裂霉素c浓度80ng／ml的染色体畸变数均相关（P=0．000），其中，最为显著相关的参数是彗星细胞率（r=0．848，P=0．000）。（5）SCGE试验指标的ROC曲线结果表明：彗星细胞率的ROC曲线下面积最大，为0．999。结论SCGE试验可以作为FA诊断的辅助检查之一。SCGE的试验结果与丝裂霉素C的80ng／ml的染色体畸变数显著相关，FA患儿与非FA患儿的SCGE的试验结果差异有统计学意义，彗星细胞率可作为重要分析参数。

英文摘要：

Objective Fanconi anemia （FA） is characterized by bone marrow failure, congenital abnormalities and predisposition to neoplasia. Hypersensitivity of FA cells to the clastogenic effect of mitomycin C （MMC） provides a unique marker for the diagnosis before the beginning of hematological manifestations. The aim of this study was to evaluate the relationship between Single-Cell Gel Electrophoresis （SCGE） and mitomycin C-induced chromosomal breakage in children with FA. Method Between January 2007 and June 2011,248 children （ 〈 15 years） with hypocytosis were included. Chromosomal breakage was induced by MMC 0 ng/ml, 40 ng/ml, and 80 ng/ml. SCGE was performed at the same time. We analyzed the results of the two methods and compared with each other. The receiver operatin characteristic（ROC） curve was used to evaluate the parameters in SCGE. Result Seventeen patients were diagnosed as FA and 231 as non-FA. Chromosomal breakage was found to be significantly higher in FA patients [ （ 32.2 ± 4.8 ） % than non-FA [ （ 19.9 ± 3. 0） % ] and controls [ （21.6 ± 4.8 ） % ] when induced by MMC 80 ng/ml. The parameters of SCGE were significantly different between FA patients and non-FA or controls. All the parameters were rectilinearly correlated with MMC （P = 0. 000 ）. The most closely correlated parameter was the rate of comet cell （ r = 0. 848,P = 0. 000）. The results of ROC curves suggested the comet cell rate（0. 999） was more important. Conclusion SCGE might he used to discriminate between FA and non-FA individuals. The relationship between SCGE and MMC-induced chromosomal breakage was significant. The rate of comet cell was the important parameter.