Dumanski J P, Carlbom E, Collins V P, Nordenskjöld M
Ludwig Institute for Cancer Research, Stockholm, Sweden.
Proc Natl Acad Sci U S A. 1987 Dec;84(24):9275-9. doi: 10.1073/pnas.84.24.9275.
The genotypes were analyzed at 11 polymorphic DNA loci (restriction fragment length alleles) on chromosome 22 in tumor and normal tissue from 35 unrelated patients with meningiomas. Sixteen tumors retained the constitutional genotype along chromosome 22, while 14 tumors (40%) showed loss of one constitutional allele at all informative loci, consistent with monosomy 22 in the tumor DNA. The remaining 5 tumors (14%) showed loss of heterozygosity in the tumor DNA at one or more chromosome 22 loci and retained heterozygosity at other loci, consistent with variable terminal deletions of one chromosome 22 in the tumor DNA. The results suggest that a meningioma locus is located distal to the myoglobin locus, within 22q12.3-qter. Multiple loci on other chromosomes also were studied, and 12 of the 19 tumors with losses of chromosome 22 alleles showed additional losses of heterozygosity at loci on one to three other chromosomes. All tumors that retained the constitutional genotype on chromosome 22 also retained heterozygosity at all informative loci on other chromosomes analyzed, suggesting that the rearrangement of chromosome 22 is a primary event in the tumorigenesis of meningioma.
对35名无亲缘关系的脑膜瘤患者肿瘤组织和正常组织中22号染色体上的11个多态性DNA位点(限制性片段长度等位基因)的基因型进行了分析。16个肿瘤在22号染色体上保留了原有的基因型,而14个肿瘤(40%)在所有信息位点均显示一个原有等位基因缺失,这与肿瘤DNA中的22号染色体单体性一致。其余5个肿瘤(14%)在肿瘤DNA中的一个或多个22号染色体位点显示杂合性缺失,而在其他位点保留杂合性,这与肿瘤DNA中一条22号染色体的可变末端缺失一致。结果表明,一个脑膜瘤基因座位于肌红蛋白基因座的远端,在22q12.3 - qter范围内。还对其他染色体上的多个基因座进行了研究,在19个有22号染色体等位基因缺失的肿瘤中,有12个在一到三条其他染色体的基因座上也显示出额外的杂合性缺失。所有在22号染色体上保留原有基因型的肿瘤在分析的其他染色体的所有信息位点也保留了杂合性,这表明22号染色体的重排是脑膜瘤肿瘤发生过程中的一个主要事件。