[The application of single-cell gel electrophoresis to the diagnosis of fanconi anemia].
OBJECTIVE
To explore the feasibility of single-cell gel electrophoresis (SCGE) as one of lab tests to examine DNA breakage for the diagnosis of Fanconi anemia (FA). Case Record A 4-year-and-10-month old boy presented with cryptorchism, deformities of both thumbs and esotropia of right eye. He developed thrombocytopenia and anemia when he was 3 year- and -2-month old. He was clinically diagnosed as FA.


RESULTS
DNA breakage of peripheral white blood cells from the patient and his parents was examined with SCGE. The percentages of cells with chromosome breakage (comet-tail positive cells) were 100%, 90% and 52% for the patient,his father and mother, respectively, while that were only 2% and 5% in two normal same-age children (P <0. 001). The micronucleus-positive lymphocytes was 6.74% in the patient, being also much higher than normal value (0.40%).


CONCLUSIONS
SCGE disclosed DNA breakage in the patient with FA, suggesting that it could be used as a test for determining DNA breakage of FA.
Qi
Jun-Yuan
JY
Institute of Hematology & Blood Disease Hospital, CAMS & PUMC, Tianjin 300020, China.
Shao
Ying-Qi
YQ
Lju
Yong-Ze
YZ
Liu
Qiang
Q
Zheng
Yi-Zhou
YZ
Zhang
Feng-Kui
FK
Zhao
Yong-Cheng
YC
D002675:Child, Preschool; D020552:Comet Assay; D005199:Fanconi Anemia / Q000175:diagnosis*; D006801:Humans; D008297:Male