Physical mapping of the bloom syndrome region by the identification of YAC and P1 clones from human chromosome 15 band q26.1.
Physical mapping of the bloom syndrome region by the identification of YAC and P1 clones from human chromosome 15 band q26.1.
复制标题
通过鉴定来自人类染色体 15 带 q26.1 的 YAC 和 P1 克隆，对布卢姆综合征区域进行物理绘图。
DOI：
10.1006/geno.1996.0330
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发表时间：
1996
期刊：
影响因子：
4.4
通讯作者：
Groden,J
中科院分区：
文献类型：
--
作者：
Straughen,J;Ciocci,S;Ye,TZ;Lennon,DN;Proytcheva,M;Alhadeff,B;Goodfellow,P;German,J;Ellis,NA;Groden,J
Bloom综合征(BLM)基因已通过纯合子定位定位于人类染色体15号带q26.1。BLM的进一步定位依赖于连锁-不平衡定位和体细胞基因内重组。与这些作图方法相结合，并为BLM候选区域寻找新的DNA标记和探针，产生了包含BLM基因的2-Mb区域的连续表示。该地区的YAC和P1克隆已经通过使用该地区以前可用的遗传标记以及新开发的辐射减少杂交种的序列标记位点、多态二核苷酸重复基因座以及YAC和P1的末端序列进行了鉴定和排序。还报道了2-Mb区域的长距离限制图，它允许估计多态微卫星座位之间的距离。这一图谱及其衍生的DNA标记在最近对BLM基因的鉴定中起到了重要作用。
The gene for Bloom syndrome (BLM) has been mapped to human chromosome 15 band q26.1 by homozygosity mapping. Further refinement of the location ofBLMhas relied upon linkage-disequilibrium mapping and somatic intragenic recombination. In combination with these mapping approaches and to identify novel DNA markers and probes for theBLMcandidate region, a contiguous representation of the 2-Mb region that contains theBLMgene was generated and is presented here. YAC and P1 clones from the region have been identified and ordered by using previously available genetic markers in the region along with newly developed sequence-tagged sites from radiation-reduced hybrids, polymorphic dinucleotide repeat loci, and end sequences of YACs and P1s. A long-range restriction map of the 2-Mb region that allowed estimation of the distance between polymorphic microsatellite loci is also reported. This map and the DNA markers derived from it were instrumental in the recent identification of theBLMgene.