Physical and transcriptional map of the hereditary inclusion body myopathy locus on chromosome 9p12-p13
Physical and transcriptional map of the hereditary inclusion body myopathy locus on chromosome 9p12-p13
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DOI：
10.1038/sj.ejhg.5200665
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发表时间：
2001-07-01
影响因子：
5.2
通讯作者：
Mitrani-Rosenbaum, S
中科院分区：
文献类型：
--
作者：
Eisenberg, I;Hochner, H;Mitrani-Rosenbaum, S
遗传性包涵体肌病（HIBM）是一组神经肌肉疾病，其特征在于成人发病、缓慢进行性远端和近端肌无力和典型的肌肉病理。在此之前，我们已经映射的基因负责隐性形式的HIBM染色体9P1和缩小的间隔到一个单一的YAC克隆的1 Mb的大小。作为对HIBM基因的鉴定的进一步步骤，我们已经构建了该区域的详细物理和转录图谱。构建了包括HIBM关键区的高分辨率BAC重叠群，其侧翼为标记327GT4和D9S1859。该重叠群允许25个基因和EST精确定位于9号染色体的近端区域。通过北方印迹分析确定了这些定位基因和EST的表达模式。在对HIBM区间进行细化的过程中，鉴定出13个新的多态性标记，其中11个是CA重复序列，2个是单核苷酸多态性。当然，该图谱提供了对应于染色体9p12-p13的物理和转录信息的重要整合，预期其不仅有助于HIBM基因的克隆和鉴定，而且有助于定位于该区域的其它疾病基因的克隆和鉴定。
Hereditary inclusion body myopathy (HIBM) is a group of neuromuscular disorders characterised by adult onset, slowly progressive distal and proximal muscle weakness and typical muscle pathology. Previously, we have mapped the gene responsible for a recessive form of HIBM to chromosome 9p1 and narrowed the interval to one single YAC clone of 1 Mb in size. As a further step towards the identification of the HIBM gene, we have constructed a detailed physical and transcriptional map of this region. A high resolution BAC contig that includes the HIBM critical region, flanked by marker 327GT4 and D9S1859, was constructed. This contig allowed the precise localisation of 25 genes and ESTs to the proximal region of chromosome 9. The expression pattern of those mapped genes and ESTs was established by Northern blot analysis. In the process of refining the HIBM interval, 13 new polymorphic markers were identified, of which I I are CA-repeats, and two are single nucleotide polymorphisms. Certainly, this map provides an important integration of physical and transcriptional information corresponding to chromosome 9p12-p13, which is expected to facilitate the cloning and identification not only of the HIBM gene, but also other disease genes which map to this region.