Characterisation of large F9 deletions in seven unrelated patients with severe haemophilia B
Characterisation of large F9 deletions in seven unrelated patients with severe haemophilia B
复制标题
七名不相关的严重 B 型血友病患者中 F9 大缺失的特征
DOI：
10.1160/th13-12-1060
复制
发表时间：
2014-09
期刊：
影响因子：
--
通讯作者：
Xuefeng Wang
中科院分区：
文献类型：
--
作者：
Jing Dai;Xiaodong Xi;Hongli Wang;Xuefeng Wang
Summary Large deletions in the F9 gene are detected in approximately 5% of patients with severe haemophilia B, but only a few deletion breakpoints have been characterised precisely until now. In this study we identified a total of seven large F9 deletions in the index patients and nine female carriers by the AccuCopy technique. We also successfully characterised the exact breakpoints for each large deletion including four deletions encompassing the entire F9 gene by the genome walking method combined with primer walking strategy. The extents of deletion regions ranged from 11.1 to 884 kb. Microhomologies ranged from 2 to 6 bp were identified in the breakpoint junctions of six deletions. The other deletion occurred between two highly homologous sequences of the same long interspersed nuclear element 1 (LINE/L1). Non-homologous end joining (NHEJ) and microhomology-mediated break-induced replication (MMBIR) may be the main causative mechanisms for the six large deletions with microhomologies. Non-allelic homologous recombination (NAHR) may mediate the deletion occurred between the two tandem LINEs in the other large deletion. Repetitive elements and non-B DNA forming motifs identified in the junction regions may contribute to DNA breakage leading to large deletions.
登录
查看更多内容
影响因子：
37.3
作者：
Yamamoto Y;Yoshioka Y;Minoura K;Takahashi RU;Takeshita F;Taya T;Horii R;Fukuoka Y;Kato T;Kosaka N;Ochiya T
通讯作者：
Ochiya T
影响因子：
3.9
作者：
Kwon, M. -J.;Yoo, K. -Y.;Kim, S. -H.
通讯作者：
Kim, S. -H.
使用多重竞争扩增对片段复制介导的重排热点中的拷贝数变异进行有效分型
影响因子：
3.5
作者：
Du, Renqian;Lu, Chuncheng;Zhang, Feng
通讯作者：
Zhang, Feng
影响因子：
9.8
作者：
M. Ludwig;T. Grimm;H. Brackmann;K. Olek
通讯作者：
M. Ludwig;T. Grimm;H. Brackmann;K. Olek
影响因子：
9.8
作者：
S. Chen;C. Scott
通讯作者：
S. Chen;C. Scott