包含乳腺癌易感基因座BRCA2的人类染色体13q12 - 13区域的高分辨率注释物理图谱。
A high-resolution annotated physical map of the human chromosome 13q12-13 region containing the breast cancer susceptibility locus BRCA2.
作者信息
Fischer S G, Cayanis E, de Fatima Bonaldo M, Bowcock A M, Deaven L L, Edelman I S, Gallardo T, Kalachikov S, Lawton L, Longmire J L, Lovett M, Osborne-Lawrence S, Rothstein R, Russo J J, Soares M B, Sunjevaric I, Venkatraj V S, Warburton D, Zhang P, Efstratiadis A
机构信息
Department of Biochemistry and Molecular Biophysics, Columbia University, New York, NY 10032, USA.
出版信息
Proc Natl Acad Sci U S A. 1996 Jan 23;93(2):690-4. doi: 10.1073/pnas.93.2.690.
Various types of physical mapping data were assembled by developing a set of computer programs (Integrated Mapping Package) to derive a detailed, annotated map of a 4-Mb region of human chromosome 13 that includes the BRCA2 locus. The final assembly consists of a yeast artificial chromosome (YAC) contig with 42 members spanning the 13q12-13 region and aligned contigs of 399 cosmids established by cross-hybridization between the cosmids, which were selected from a chromosome 13-specific cosmid library using inter-Alu PCR probes from the YACs. The end sequences of 60 cosmids spaced nearly evenly across the map were used to generate sequence-tagged sites (STSs), which were mapped to the YACs by PCR. A contig framework was generated by STS content mapping, and the map was assembled on this scaffold. Additional annotation was provided by 72 expressed sequences and 10 genetic markers that were positioned on the map by hybridization to cosmids.
通过开发一套计算机程序（综合绘图软件包），收集了各种类型的物理图谱数据，以绘制人类13号染色体4 Mb区域的详细注释图谱，该区域包括BRCA2基因座。最终的组装结果包括一个酵母人工染色体（YAC）重叠群，由42个成员组成，跨越13q12 - 13区域，以及通过粘粒之间的交叉杂交建立的399个粘粒的对齐重叠群，这些粘粒是使用来自YAC的Alu间PCR探针从13号染色体特异性粘粒文库中筛选出来的。在图谱上几乎均匀分布的60个粘粒的末端序列用于生成序列标签位点（STS），通过PCR将其定位到YAC上。通过STS含量绘图生成重叠群框架，并在此支架上组装图谱。通过与粘粒杂交定位在图谱上的72个表达序列和10个遗传标记提供了额外的注释。
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