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Chromosome 7q31.1 deletion in myeloid neoplasms

机译:骨髓肿瘤中的染色体7q31.1缺失

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摘要

We studied monosomy and deletions of chromosome 7 in 208 patients with myeloid disorders; we found 39 patients (19%) with monosomy or deletion of chromosome 7: 24 patients with chromosome 7 deletion and 15 with monosomy 7. In the 24 patients with chromosome 7 deletions, studied with copy-number variants, short-tandem repeats, microsatellites, single nucleotide polymorphisms, and deletion polymorphisms, the most common deleted region was 7q31.1 (20 patients). Deletion polymorphism studies performed in these 20 patients showed an interstitial deletion of at least 140 kilobase in 6 patients; the deletion spans between the genes forkhead box P2 and Myo D family inhibitor domain containing. Because both genes do not seem to be involved in leukogenesis, we suggest to look carefully into this deletion for the presence of tumor suppressor genes and microRNAs.
机译:我们研究了208例患有髓样疾病的患者的7号染色体的单体性和缺失。我们发现39例(7%)患有7号染色体的单体切割或缺失:24例7号染色体缺失的患者和15例7号染色体缺失。在24例7号染色体缺失的患者中,研究了拷贝数变异,短串联重复,微卫星,单核苷酸多态性和缺失多态性,最常见的缺失区域是7q31.1(20例患者)。在这20例患者中进行的删除多态性研究显示,在6例患者中,间质性删除至少为140千碱基。缺失的范围介于基因叉头盒P2和含有Myo D家族抑制剂结构域之间。由于这两个基因似乎均不参与白血病的发生,因此我们建议仔细检查这种缺失是否存在肿瘤抑制基因和微小RNA。

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