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题目:: Comparative genomic hybridization of a mother and daughter with a familial translocation t(2;6)(p25;p21) balanced in the mother and unbalanced in the daughter to determine breakpoint location and contribute to a map of haplotolerant genes
ID:
状态:: 发布时间Dec. 31, 2008 , 更新时间 May 2, 2014 , 提交时间 Aug. 1, 2007,
物种:: Homo sapiens
摘要:: A 244 K genome-wide array based comparative genomic hybridization study was carried out in a familial translocation t(2;6)(p25;p21) balanced in the mother (SDM) and unbalanced in her daughter (SD). In the past, this translocation has allowed to localize the HLA multigene cluster to chromosome 6. With microarray technology, confirmation of the chromosome localization of HLA system was easily obtained, showing that such approach may be applied to the breakpoint localizations of other familial structural changes when they are unbalanced. Of interest was the breakage of genes at the breakpoint localization, without any phenotypic consequence to the parent and allowing to constitute a map of « haplotolerant genes ». In addition, many genomic variants were detected with this technology, enlarging the possibility of analyzing their possible contribution to phenotypic diversity.
实验种类:: comparative genomic hybridization by array
样本量:: 3
实验设计:
: 无设计数据
数据号:: E-TABM-308
数据状态:: 无法自动分析，您可以尝试手动分析数据。

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