...
  • 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Balkan journal of medical genetics: BJMG >DIAGNOSIS OF FANCONI'S ANEMIA BY DIEPOXYBUTANE ANALYSIS IN CHILDREN FROM SERBIA
【24h】

DIAGNOSIS OF FANCONI'S ANEMIA BY DIEPOXYBUTANE ANALYSIS IN CHILDREN FROM SERBIA

机译：用双脱氧丁烷分析诊断塞尔维亚儿童中的范可尼贫血

获取原文
获取原文并翻译 | 示例
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

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.
机译：在临床怀疑患有FA的儿童中，Fanconi贫血（FA）细胞对药物诱导的DNA链间交联（ICL）如二环氧丁烷（DEB）的高度敏感性被用作FA筛查的一部分。这项研究考虑了66名患有FA的血液学和/或先天性表型症状的儿童。收集来自临床怀疑为FA的患者和对照组的血样，通过DEB测试评估染色体的脆性。根据DEB测试的结果，将患者分为两个亚组：显示典型的DEB敏感细胞反应的FA和非FA。在这项研究中，发现66位患者中有10位具有FA细胞表型。与非FA患者（0.00-12.00％，平均1.84％）相比，FA患者中DEB诱导的异常细胞百分比增加了26倍以上（22.00-82.00％，平均48.32％）。与非FA患者（0.00-0.20范围，平均0.02次/次）相比，FA患者DEB诱导的断裂/细胞数高出68倍（0.26-4.39，平均每次1.37次断裂）。细胞）。 FA患者的自发染色体脆性值与非FA患者的重叠。我们的结果表明，DEB敏感性测试是用于验证FA细胞表型的最可靠的体外方法。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号