Staats B, Bonk U, Wanschura S, Hanisch P, Schoenmakers E F, Van de Ven W J, Bartnitzke S, Bullerdiek J
Center for Human Genetics and Genetic Counselling, University of Bremen, Germany.
Breast Cancer Res Treat. 1996;38(3):299-303. doi: 10.1007/BF01806149.
An intracanalicular fibroadenoma of the breast showing a clonal chromosomal aberration t(4;12) (q27;q15) as the sole cytogenetic abnormality is described. In order to narrow down the breakpoint region on chromosome 12 on the molecular level we performed fluorescence in situ hybridization (FISH) analysis with a cosmid pool originating from a YAC-contig overspanning part of the region 12q14-15. We were able to narrow down the breakpoint to an approximately 230kb fragment belonging to the HMGI-C gene which maps within an area recently designated as MAR (Multiple Aberration Region). The chromosomal breakpoints of other frequent benign solid tumors, i.e. lipomas, uterine leiomyomas, and pleomorphic adenomas are clustered within the third intron of that gene.
本文描述了一例乳腺导管内纤维腺瘤，其显示出克隆性染色体畸变t(4;12)(q27;q15)，这是唯一的细胞遗传学异常。为了在分子水平上缩小12号染色体上的断点区域，我们使用了一个来自跨越12q14 - 15区域部分的YAC重叠群的粘粒文库进行荧光原位杂交(FISH)分析。我们能够将断点缩小到一个约230kb的片段，该片段属于HMGI - C基因，该基因定位于最近被指定为MAR(多重畸变区域)的区域内。其他常见良性实体瘤，即脂肪瘤、子宫平滑肌瘤和多形性腺瘤的染色体断点聚集在该基因的第三个内含子内。
