Albertsen H, Plaetke R, Ballard L, Fujimoto E, Connolly J, Lawrence E, Rodriguez P, Robertson M, Bradley P, Milner B
Eccles Institute of Human Genetics, Salt Lake City, UT 84112.
Am J Hum Genet. 1994 Mar;54(3):516-25.
Chromosome 17q21 harbors a gene (BRCA1) associated with a hereditary form of breast cancer. As a step toward identification of this gene itself we developed a number of simple-sequence-repeat (SSR) markers for chromosome 17 and constructed a high-resolution genetic map of a 40-cM region around 17q21. As part of this effort we captured genotypes from five of the markers by using an ABI sequencing instrument and stored them in a locally developed database, as a step toward automated genotyping. In addition, YACs that physically link some of the SSR markers were identified. The results provided by this study should facilitate physical mapping of the BRCA1 region and isolation of the BRCA1 gene.
17号染色体的q21区域含有一个与遗传性乳腺癌相关的基因（BRCA1）。作为鉴定该基因本身的第一步，我们开发了许多针对17号染色体的简单序列重复（SSR）标记，并构建了围绕17q21的一个40厘摩区域的高分辨率遗传图谱。作为这项工作的一部分，我们使用ABI测序仪获取了其中五个标记的基因型，并将其存储在本地开发的数据库中，作为实现自动基因分型的第一步。此外，还鉴定了一些在物理上连接某些SSR标记的酵母人工染色体（YAC）。本研究提供的结果应有助于BRCA1区域的物理图谱绘制和BRCA1基因的分离。
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