Getman M E, Houseal T W, Miller G A, Grundy P E, Cowell J K, Landes G M
Department of Human Genetics, Genzyme Corporation, Framingham, MA (USA).
Cytogenet Cell Genet. 1998;82(3-4):284-90. doi: 10.1159/000015120.
Eighty sporadic Wilms' tumor samples were analyzed by comparative genomic hybridization (CGH) to identify chromosomal regions involved in the etiology of the disease. Twenty percent of the samples showed chromosomal gains or losses. The majority of chromosomal gains and losses were similar to those identified through molecular and cytogenetic studies. Gains were observed on chromosomes 1q, 7q, 8, and 12, whereas losses were found on chromosomes 1p, 4p, 4q, 7p, 16q, 18q, 21q, and 22q. Other genetic aberrations identified in this study included deletions of chromosomes 5p and 15q, as well as gains of discrete loci on chromosomes 3p and 3q. These latter regions have not been previously implicated in Wilms' tumorigenesis and may contain novel genes relevant to the development and/or progression of this disease.
通过比较基因组杂交(CGH)分析了80个散发性肾母细胞瘤样本,以确定与该疾病病因相关的染色体区域。20%的样本显示出染色体的增加或缺失。大多数染色体的增加和缺失与通过分子和细胞遗传学研究确定的情况相似。在1q、7q、8和12号染色体上观察到增加,而在1p、4p、4q、7p、16q、18q、21q和22q号染色体上发现缺失。本研究中鉴定出的其他遗传畸变包括5p和15q号染色体的缺失,以及3p和3q号染色体上离散位点的增加。这些后发现的区域以前未被认为与肾母细胞瘤的发生有关,可能包含与该疾病的发生和/或进展相关的新基因。