Newsham I, Claussen U, Lüdecke H J, Mason M, Senger G, Horsthemke B, Cavenee W
Ludwig Institute for Cancer Research, Montreal, Canada.
Genes Chromosomes Cancer. 1991 Mar;3(2):108-16. doi: 10.1002/gcc.2870030205.
Both cytogenetic and molecular genetic analyses of the 11p15.5 subband suggest it may contain loci important in the genesis of a wide variety of tumors such as rhabdomyosarcomas and Wilms' tumors as well as the congenital tumors associated with the Beckwith-Wiedemann syndrome. As a first step in further defining the involvement of this chromosomal region in these various maladies, a library was constructed from the specific microdissection of chromosomal fragments representing 11p15.5-pter. Of 98 microclones analyzed, 31 identified single copy human DNA sequences, 21 of which mapped to 11p15.5 while 10 mapped proximal to the HBBC locus. Five of the 11p15.5-positioned microprobes detected restriction fragment length polymorphisms at their homologous genomic loci for various enzymes. These microprobes are now being utilized in several ways in order to address the underlying basis of the Beckwith-Wiedemann syndrome and its associated tumors.
对11p15.5亚带进行的细胞遗传学和分子遗传学分析均表明，该亚带可能包含对多种肿瘤发生至关重要的基因座，如横纹肌肉瘤、肾母细胞瘤以及与贝克威思-维德曼综合征相关的先天性肿瘤。作为进一步明确该染色体区域在这些不同疾病中所起作用的第一步，我们从代表11p15.5 - pter的染色体片段的特定显微切割中构建了一个文库。在分析的98个微克隆中，31个鉴定出单拷贝人类DNA序列，其中21个定位于11p15.5，而10个定位于HBBC基因座近端。位于11p15.5的5个微探针在其同源基因组位点检测到了针对多种酶的限制性片段长度多态性。目前正以多种方式利用这些微探针来探究贝克威思-维德曼综合征及其相关肿瘤的潜在病因。
