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一名Ph阳性急性淋巴细胞白血病患者中两个相互易位连接区的核苷酸序列，其断点位于BCR基因的第一个内含子内。

Nucleotide sequence of both reciprocal translocation junction regions in a patient with Ph positive acute lymphoblastic leukaemia, with a breakpoint within the first intron of the BCR gene.

作者信息

van der Feltz M J, Shivji M K, Allen P B, Heisterkamp N, Groffen J, Wiedemann L M

机构信息

Leukaemia Research Fund Centre, Chester Beatty Laboratories, London, UK.

出版信息

Nucleic Acids Res. 1989 Jan 11;17(1):1-10. doi: 10.1093/nar/17.1.1.

DOI:10.1093/nar/17.1.1
PMID:2911461
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC331530/
Abstract

Breakpoints on chromosome 22 in the translocation t(9;22) found in Philadelphia positive acute lymphoblastic leukaemia patients fall within two categories. In the first the breakpoint is localized within the breakpoint cluster region of the BCR gene, analogous to the chromosome 22 breakpoint in chronic myeloid leukaemia. The second category has a breakpoint 5' of this area, but still within the BCR gene. We have previously shown that these breakpoints occur within the first intron of the BCR gene and cloned the 9q+ junction from such a patient. We have now determined the sequences around the breakpoints on both translocation partners from this patient as well as the germline regions. The chromosome 9 ABL sequence around the breakpoint shows homology to the consensus Alu sequence whereas the chromosome 22 BCR sequence does not. At the junction there is a 6 bp duplication of the chromosome 22 sequence which is present both in the 9q+ and in the 22q- translocation products. Possible mechanisms for the generation of the translocation are discussed.

摘要

在费城染色体阳性急性淋巴细胞白血病患者中发现的t(9;22)易位中，22号染色体上的断点分为两类。第一类中，断点定位于BCR基因的断点簇区域内，类似于慢性髓性白血病中的22号染色体断点。第二类的断点在该区域的5'端，但仍在BCR基因内。我们之前已表明这些断点发生在BCR基因的第一个内含子内，并从这样一位患者克隆了9q+连接区。我们现在已确定了该患者两个易位伙伴上断点周围的序列以及种系区域。断点周围的9号染色体ABL序列与共有Alu序列显示出同源性，而22号染色体BCR序列则不然。在连接区，22号染色体序列有一个6 bp的重复，该重复存在于9q+和22q-易位产物中。文中讨论了产生该易位的可能机制。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0e50/331530/49871e4e5c00/nar00210-0022-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0e50/331530/49871e4e5c00/nar00210-0022-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0e50/331530/49871e4e5c00/nar00210-0022-a.jpg

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