DETECTION OF CRYPTIC CHROMOSOME INVERSIONS

描述：(申请人的描述)建议研究的目的 在这方面的应用是开发和完善一种方法来检测 染色体倒置，分辨率可能在3MBP到5MBP之间，并开始 为至少几条人类染色体准备这样的倒置探针。这个 易位断裂点和缺失区的识别 染色体通过传统的细胞遗传学技术导致了合理的 很好地理解了几个不同的关键基因变化 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。我们认为一些肿瘤 在没有明显像差或没有一致像差的情况下，可以 包含不可能被检测到的神秘的反转。如果是的话， 了解处于临界点的基因应该不亚于 那些是易位的。除了验证反转的必要性之外 从肿瘤细胞遗传学的角度探讨这方面的发展 探针将非常有用，远远超出了细胞遗传学的范围。 求婚。例如，它们可以用来确定 特定染色体内的任何克隆的基因或序列。

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.