A detailed physical and transcriptional map of the region of chromosome 20 that is deleted in myeloproliferative disorders and refinement of the common deleted region
A detailed physical and transcriptional map of the region of chromosome 20 that is deleted in myeloproliferative disorders and refinement of the common deleted region
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DOI：
10.1006/geno.1998.5231
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发表时间：
1998-05-01
期刊：
影响因子：
4.4
通讯作者：
Green, AR
中科院分区：
文献类型：
--
作者：
Bench, AJ;Aldred, MA;Green, AR
获得性20号染色体长臂缺失是真性红细胞增多症中最常见的染色体异常，也与其他髓系恶性肿瘤相关。这种缺失被认为标志着一个或多个肿瘤抑制基因的位点，这些基因的缺失扰乱了正常的造血。一个共同的缺失区（CDR）先前已确定20 q。我们现在已经构建了这个区域迄今为止最详细的物理图谱--一个包含整个CDR并跨越23 cM（11 Mb）的YAC重叠群。该重叠群包含140个DNA标记和65个独特的表达序列。我们的数据代表了迈向CDR完整转录图谱的第一步。物理图谱内的高标记密度允许两种互补的方法来减小CDR的大小。微卫星PCR将CDR的着丝粒边界细化到D20 S465，并使用32个标记在28例患者中搜索纯合缺失。未检测到此类缺失。因此，剩余染色体20上的遗传变化可能太小而不能被检测到，或者可能发生在细胞亚群中。(C)北京：科学出版社.
Acquired deletions of the long arm of chromosome 20 are the most common chromosomal abnormality seen in polycythemia vera and are also associated with other myeloid malignancies. Such deletions are believed to mark the site of one or more tumor suppressor genes, loss of which perturbs normal hematopoiesis. A common deleted region (CDR) has previously been identified on 20q. We have now constructed the most detailed physical map of this region to date-a YAC contig that encompasses the entire CDR and spans 23 cM (11 Mb). This contig contains 140 DNA markers and 65 unique expressed sequences. Our data represent a first step toward a complete transcriptional map of the CDR. The high marker density within the physical map permitted two complementary approaches to reducing the size of the CDR. Microsatellite PCR refined the centromeric boundary of the CDR to D20S465 and was used to search for homozygous deletions in 28 patients using 32 markers. No such deletions were detected. Genetic changes on the remaining chromosome 20 may therefore be too small to be detected or may occur in a subpopulation of cells. (C) 1998 Academic Press.