COMPARISON OF CONSTITUTIONAL AND TUMOR-ASSOCIATED 11-22 TRANSLOCATIONS - NONIDENTICAL BREAKPOINTS ON CHROMOSOME-11 AND CHROMOSOME-22
COMPARISON OF CONSTITUTIONAL AND TUMOR-ASSOCIATED 11-22 TRANSLOCATIONS - NONIDENTICAL BREAKPOINTS ON CHROMOSOME-11 AND CHROMOSOME-22
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DOI：
10.1073/pnas.83.16.6122
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发表时间：
1986-08-01
影响因子：
11.1
通讯作者：
EMANUEL, BS
中科院分区：
文献类型：
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作者：
GRIFFIN, CA;MCKEON, C;EMANUEL, BS
反复出现的、特定位点的染色体重排与几种人类综合征和恶性疾病有关。这种涉及q11带22号染色体的非随机易位是大量的，并且被发现与多种肿瘤和体质障碍有关。11号染色体q23-q24带类似地参与几种类型的肿瘤以及与22号染色体反复发生的构象互惠易位。在这里，我们报告使用染色体原位杂交来比较细胞学上难以区分的构成t（11:22）和与尤文氏肉瘤和周围神经上皮瘤相关的肿瘤相关t（11:22）的易位断点。我们已经证明，对于编码Ig .lambda恒定区域的位点，断点可以彼此区分。轻链（C.lambda.）在22q11和ETS1位点在11q23 .fwdarw。抓起;ETS1被称为huets -1或human c-ets-1。肿瘤相关的11号染色体断点也不同于t（9;11）和t（4;11）易位的白血病。Southern-blot分析显示，在我们的探针检测到的区域中，这些疾病中没有ETS1的重排。ETS1也被更精确地映射到11q23.3 .fwdarw。通过原位杂交，将Q24与具有11q23.3基因的个体细胞杂交。qt删除。
Recurring, site-specific chromosomal rearrangements are associated with several human syndromes and malignant disorders. Such nonrandom translocations involving chromosome 22 in band q11 are numerous and found to be associated with a diversity of neoplasms as well as constitutional disorders. Chromosome 11 in bands q23-q24 is similarly involved in several types of tumors as well as in the recurring constitutional reciprocal translocation with chromosome 22. Here we report the use of chromosomal in situ hybridization to compare the translocation breakpoints in the cytologically indistinguishable constitutional t(11:22) and the tumor-related t(11;22) associated with Ewing sarcoma and peripheral neuroepithelioma. We have shown that the breakpoints can be distinguished from each other with respect to the locus encoding the constant region of the Ig .lambda. light chain (C.lambda.) at 22q11 and the ETS1 locus at 11q23 .fwdarw. q24; ETS1 has been called hu-ets-1 or human c-ets-1. The tumor-associated chromosome 11 breakpoint is also different from those of leukemias with t(9;11) and t(4;11) translocations. Southern-blot analysis showed no rearrangement of ETS1 in these disorders in the region detected by our probe. ETS1 has also been mapped more precisely to 11q23.3 .fwdarw. q24 by in situ hybridization to cells from an individual with an 11q23.3 .fwdarw. qter deletion.