Neuhausen S L, Swensen J, Miki Y, Liu Q, Tavtigian S, Shattuck-Eidens D, Kamb A, Hobbs M R, Gingrich J, Shizuya H
Department of Medical Informatics, University of Utah Medical Center, Salt Lake City 84132.
Hum Mol Genet. 1994 Nov;3(11):1919-26. doi: 10.1093/hmg/3.11.1919.
BRCA1, a breast and ovarian cancer susceptibility locus, has been isolated and maps to 17q21. A physical map of the BRCA1 region which extended from the proximal boundary at D17S776 to the distal boundary at D17S78 was constructed and consists of 51 sequence tagged sites (STSs) from P1 and YAC ends, nine new short-tandem repeat (STR) polymorphic markers, and eight identified genes. The contig, which spans the estimated 2.3 Mb region, contains 29 P1s, 11 YACs, two BACs, and one cosmid. Based on key recombinants in two linked families, BRCA1 was further localized to a region bounded by D17S1321 on the proximal side and D17S1325 on the distal side. Within this estimated 600 kb region, the contig was composed completely of P1s and BACs ordered by STS-content mapping and confirmed by DNA restriction fragment fingerprinting.
乳腺癌1号基因（BRCA1）是一个与乳腺癌和卵巢癌易感性相关的基因座，已被分离出来并定位于17号染色体长臂21区（17q21）。构建了BRCA1区域的物理图谱，该区域从近端边界D17S776延伸至远端边界D17S78，由来自P1和酵母人工染色体（YAC）末端的51个序列标签位点（STS）、9个新的短串联重复序列（STR）多态性标记以及8个已鉴定的基因组成。这个重叠群跨越了估计2.3兆碱基（Mb）的区域，包含29个P1、11个YAC、2个细菌人工染色体（BAC）和1个黏粒。基于两个连锁家族中的关键重组体，BRCA1被进一步定位到一个由近端的D17S1321和远端的D17S1325界定的区域。在这个估计600千碱基（kb）的区域内，重叠群完全由通过STS含量图谱排序并经DNA限制性片段指纹图谱确认的P1和BAC组成。
