Peltomäki P, Halme A, de la Chapelle A
Department of Medical Genetics, University of Helsinki, Finland.
Cancer Genet Cytogenet. 1990 Aug 1;48(1):1-12. doi: 10.1016/0165-4608(90)90209-s.
Fourteen males with testicular tumor were studied by Southern blot hybridization. Probes detecting restriction fragment length polymorphisms at loci on 14 autosomes were used. In comparison with DNA from normal tissue, clear differences in allele dosage were observed in tumor DNA at loci mapping to the short and/or long arm of chromosomes 5, 7, and 12 in six patients with testicular germ cell tumor. In three patients, all three chromosomes were affected. Tumor DNA of the same patients also showed an imbalance between the sex chromosomes, with a relative deficiency of DNA of Y-chromosomal and a concurrent excess of DNA of X-chromosomal origin. Restriction fragment length polymorphisms from chromosomes 1, 3, 9, 11, 13, 16, 17, 18, 19, 21, and 22 did not show any consistent changes in tumor DNA. Possible consequences of the above alterations as a result of gene dosage effects, oncogene activation, and unmasking of tumor suppressor genes are discussed.
对14例睾丸肿瘤男性患者进行了Southern印迹杂交研究。使用了检测14条常染色体上基因座限制性片段长度多态性的探针。与正常组织的DNA相比，在6例睾丸生殖细胞肿瘤患者中，位于5号、7号和12号染色体短臂和/或长臂上的基因座的肿瘤DNA中观察到等位基因剂量存在明显差异。在3例患者中，所有三条染色体均受影响。同一患者的肿瘤DNA在性染色体之间也表现出失衡，Y染色体来源的DNA相对不足，同时X染色体来源的DNA过量。来自1号、3号、9号、11号、13号、16号、17号、18号、19号、21号和22号染色体的限制性片段长度多态性在肿瘤DNA中未显示出任何一致的变化。讨论了上述改变因基因剂量效应、癌基因激活和肿瘤抑制基因暴露而可能产生的后果。
