Meese E, Blin N, Zang K D
Institut für Humangenetik der Universität, Homburg/Saar, Federal Republic of Germany.
Hum Genet. 1987 Dec;77(4):349-51. doi: 10.1007/BF00291425.
In some human tumors, loss of particular genes manifested indirectly by loss of heterozygosity for specific RFLPs seems to uncover either heterozygous deletions leading to a gene doses effect or homozygous deletions due to a silent allele at the corresponding locus, both causing the loss of regulatory functions (antioncogenes, suppressor genes). Meningioma, a benign human tumor derived from the coverings of brain and spinal cord, is associated with complete loss, rarely deletion, of one chromosome 22. About 60% of meningiomas exhibit monosomy 22 in all or part of cells; however, about 40% display a normal karyotype. Comparison of constitutional and tumor genomes from 12 patients showed loss of heterozygosity on 22 in three cases, suggesting the involvement of events at the DNA level.
在一些人类肿瘤中,特定基因的缺失通过特定限制性片段长度多态性(RFLP)杂合性的丧失而间接表现出来,这似乎揭示了导致基因剂量效应的杂合性缺失或由于相应位点的沉默等位基因导致的纯合性缺失,两者都会导致调节功能(抗癌基因、抑癌基因)的丧失。脑膜瘤是一种源自脑和脊髓被膜的良性人类肿瘤,与22号染色体的完全缺失(很少有缺失)有关。约60%的脑膜瘤在全部或部分细胞中表现出22号染色体单体性;然而,约40%显示正常核型。对12名患者的体细胞基因组和肿瘤基因组进行比较,发现3例患者的22号染色体存在杂合性缺失,提示存在DNA水平的事件参与。