DETECTION OF CRYPTIC CHROMOSOME INVERSIONS

描述：（申请人描述）拟议研究的目的 在本申请中是开发和改进一种方法来检测隐藏的 染色体倒位，分辨率可能为3Mbp至5Mbp，并开始 以制备用于至少几个人类染色体的这种倒位探针。 的 易位断裂点和缺失区的鉴定 染色体的常规细胞遗传学技术已经导致了合理的 很好地理解了几个关键的遗传变化，在一些不同的 癌症，如伯基特淋巴瘤和一些白血病，甚至导致 新的生长控制基因的发现。 我们认为有些肿瘤 在没有观察到明显的像差或没有观察到一致的像差的情况下， 包含了难以察觉的神秘倒置 如果是这样的话， 关于断裂点基因的知识应该不亚于 那些是易位的 除了证实需要倒置 从癌症细胞遗传学的角度来看， 探针将是非常有用的，远远超出了细胞遗传学的范围， 提议 例如，它们可以用于确定 任何克隆的基因或特定染色体中的序列。

DESCRIPTION: (Applicant's Description) The purpose of the research proposed in this application is to develop and refine a methodology to detect cryptic chromosome inversions with a resolution of perhaps 3Mbp to 5Mbp and to begin to prepare such inversion probes for at least a few human chromosomes. The identification of translocation break-points and deleted regions of chromosomes by conventional cytogenetic techniques has led to a reasonably good understanding of several key genetic changes in a number of different cancers such as Burkitt's lymphoma and some leukemias and has even led to the discovery of new growth controlling genes. We suggest that some tumors where no obvious aberrations or no consistent aberrations are seen may contain cryptic inversions which have been impossible to detect. If so, knowledge of genes at the break points should be no less interesting than those for translocations. Aside from validating the need for inversion probes from the point of view of cancer cytogenetics, development of such probes would be very useful well beyond the cytogenetic scope of this proposal. For example, they could be used to determine the orientation of any cloned gene or sequence within a particular chromosome.