Evidence for correlation of fragile sites and chromosomal breakpoints in carriers of constitutional balanced chromosomal rearrangements.
Evidence for correlation of fragile sites and chromosomal breakpoints in carriers of constitutional balanced chromosomal rearrangements.
复制标题
DOI：
10.2478/v10034-011-0042-z
复制
发表时间：
2011-12
期刊：
影响因子：
--
通讯作者：
Mrasek K
中科院分区：
文献类型：
--
作者：
Liehr T;Kosayakova N;Schröder J;Ziegler M;Kreskowski K;Pohle B;Bhatt S;Theuss L;Wilhelm K;Weise A;Mrasek K
本文对251例因不明原因不孕症或产前诊断结果正常的染色体平衡重排患者进行了分子细胞遗传学研究。对平衡易位(127例)、倒位(105例)、插入(3例)、平衡复杂重排(4例)或衍生染色体(12例)进行多色显带(MCB)和/或亚着丝粒多色荧光原位杂交(SubcenM-FISH)。有529个断裂事件具有分子细胞遗传学特征。其中只有150个是唯一的断点，其余的在2到10次之间被观察到。根据所获得的结果，在所研究的529个断裂事件中，约71%存在脆性位点(FS)的细胞遗传学共定位。用FS特异性细菌人工染色体(BAC)探针对9例有FS内断裂点证据的病例进行了进一步分析；只有1例没有显示共定位。进一步的详细的分子分析将是必要的，以确定这种现象的机制和遗传基础。
A molecular cytogenetic study of 251 cases with balanced chromosomal rearrangements detected due to infertility of unclear origin or in prenatal diagnostics with a later normal outcome was done. Balanced translocations (127 cases), inversions (105 cases), insertions (three cases), balanced complex rearrangements (four cases), or derivative chromosomes leading to no imbalance (12 cases), were studied by multicolor banding (MCB) and/or subcentromeric multicolor fluorescence in situ hybridization (subcenM-FISH). Five-hundred and twenty-nine break-events were characterized by molecular cytogenetics. Only 150 of these were unique breakpoints, the remainder were observed between two and 10 times. According to the results obtained, there was cytogenetic co-localization of fragile site (FS) in ~71% of the studied 529 break-events. Nine selected cases with evidence for breakpoints within FS were further analyzed by FS-specific bacterial artificial chromosome (BAC) probes; only one did not show a co-localization. Further detailed molecular analysis will be necessary to characterize the mechanisms and genetic basis for this phenomenon.
登录
查看更多内容
影响因子：
3.2
作者：
Weise, Anja;Mrasek, Kristin;Kosyakova, Nadezda
通讯作者：
Kosyakova, Nadezda
影响因子：
5.2
作者：
Mrasek, Kristin;Schoder, Christiane;Weise, Anja
通讯作者：
Weise, Anja
影响因子：
7
作者：
Ou, Zhishuo;Stankiewicz, Pawel;Cheung, Sau W.
通讯作者：
Cheung, Sau W.
影响因子：
1.7
作者：
Liehr, T;Mrasek, K;Starke, H
通讯作者：
Starke, H