Diagnosis of Fanconi's Anemia by Diepoxybutane Analysis in Children from Serbia.
Diagnosis of Fanconi's Anemia by Diepoxybutane Analysis in Children from Serbia.
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DOI：
10.2478/v10034-011-0048-6
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发表时间：
2011-12
期刊：
影响因子：
--
通讯作者：
Jovanovic A
中科院分区：
文献类型：
--
作者：
Cirkovic S;Guc-Scekic M;Vujic D;Ilic N;Micic D;Skoric D;Jovanovic A
利用Fanconi‘s贫血(FA)细胞对二环氧丁烷(DEB)等药物诱导的DNA链间交联物(ICL)的高度敏感性，对临床怀疑FA的儿童进行FA筛查。这项研究考虑了66名血液学和/或先天性表型症状类似于FA的儿童。采集临床疑似FA患者和对照组的血样，用DEB试验进行染色体脆性检测。根据DEB试验结果，将患者分为两个亚组：表现典型的DEB敏感细胞反应的FA组和非FA组。在这项研究中，66名患者中有10名被发现有FA细胞表型。FA组DEB诱发的异常细胞百分率(22.00-82.00%，平均48.32%)比非FA组(0.00-12.00%，平均1.84%)高26倍以上。FA患者DEB诱导的Break数(0.26~4.39，平均1.37次/细胞)是非FA患者(0.00~0.20，平均0.02次/细胞)的68倍以上。FA患者的自发染色体脆值与非FA患者的染色体脆值重叠。我们的结果表明，DEB敏感性试验是验证FA细胞表型最可靠的方法。
The high sensitivity of Fanconi’s anemia (FA) cells to drug induced DNA interstrand crosslinks (ICL) such as diepoxybutane (DEB) was used as a part of FA screening in the children with clinical suspicion of FA. The study considered a total of 66 children with the hematological and/or congenital phenotypic symptoms reminiscent of FA. Blood samples from patients with clinical suspicion of FA and controls were collected for chromosome fragility evaluation by the DEB test. According to the results of DEB test, the patients were divided into two subgroups: FA displaying typical DEB sensitive cellular response and non FA. In this study, 10 out of 66 patients were found to have a FA cellular phenotype. The percentage of DEB-induced aberrant cells was increased more than 26 times in FA patients (range 22.00–82.00% with a mean of 48.32%) when compared to non FA patients (range 0.00–12.00% with a mean of 1.84%). The number of DEB-induced breaks/cells was more than 68 times higher in FA patients (range 0.26–4.39 with a mean of 1.37 breaks/cell) when compared to non FA patients (range 0.00–0.20 with a mean of 0.02 breaks/cell). The spontaneous chromosome fragility values in FA patients were overlapping those in non FA patients. Our results indicate that the DEB sensitivity test is the most reliable in vitro method for verification of the FA cellular phenotype.
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影响因子：
30.8
作者：
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通讯作者：
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影响因子：
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作者：
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作者：
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作者：
JOENJE, H;ARWERT, F;OOSTRA, AB
通讯作者：
OOSTRA, AB