title: [Correlation of single-cell gel electrophoresis and mitomycin C-induced chromosomal breakage for chromosomal instabiligy in children with Fanconi anemia].
abstract: 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.
  
  
  METHODS
  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 operating characteristic (ROC) curve was used to evaluate the parameters in SCGE.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  SCGE might be 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.
authors.affiliation: Department of Pediatrics, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin 300020, China.
authors.forename: Li
authors.initials: L
authors.lastname: Zhang
authors.forename: Qiang
authors.initials: Q
authors.lastname: Liu
authors.forename: Yao
authors.initials: Y
authors.lastname: Zou
authors.forename: Xiao-ming
authors.initials: XM
authors.lastname: Liu
authors.forename: Jia-yuan
authors.initials: JY
authors.lastname: Zhang
authors.forename: Shu-chun
authors.initials: SC
authors.lastname: Wang
authors.forename: Xiao-juan
authors.initials: XJ
authors.lastname: Chen
authors.forename: Ye
authors.initials: Y
authors.lastname: Guo
authors.forename: Wen-yu
authors.initials: WY
authors.lastname: Yang
authors.forename: Min
authors.initials: M
authors.lastname: Ruan
authors.forename: Tian-feng
authors.initials: TF
authors.lastname: Liu
authors.forename: Fang
authors.initials: F
authors.lastname: Liu
authors.forename: Xiao-jin
authors.initials: XJ
authors.lastname: Cai
authors.forename: Yu-mei
authors.initials: YM
authors.lastname: Chen
authors.forename: Xiao-fan
authors.initials: XF
authors.lastname: Zhu
mesh_terms: D000293:Adolescent; D000741:Anemia, Aplastic / Q000175:diagnosis*; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D043171:Chromosomal Instability; D019457:Chromosome Breakage / Q000187:drug effects*; D020552:Comet Assay / Q000379:methods*; D004249:DNA Damage; D003937:Diagnosis, Differential; D005199:Fanconi Anemia / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D016685:Mitomycin / Q000494:pharmacology; D009030:Mosaicism; D010198:Pancytopenia / Q000175:diagnosis / Q000235:genetics; D012372:ROC Curve
chemical_list: D016685:Mitomycin