Physical linkage of expressed sequence tags (ESTs) to polymorphic markers on the X chromosome.
Physical linkage of expressed sequence tags (ESTs) to polymorphic markers on the X chromosome.
复制标题
表达序列标签 (EST) 与 X 染色体上的多态性标记的物理连接。
DOI：
10.1093/hmg/3.7.1095
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发表时间：
1994
影响因子：
3.5
通讯作者：
Srivastava,AK
中科院分区：
文献类型：
--
作者：
Mazzarella,R;Srivastava,AK
表达序列标签（est）原则上可以作为专门的序列标记位点（sts）来组装人类基因组的功能图谱。将est与最近的遗传连锁标记物理连接的策略应该为与这些标记或位点相关的x连锁疾病提供特定的候选基因。因此，我们分析了基因组数据库（GDB）中分配给X染色体的19条ESTs。其中18个被证实是X特异性的，并被定位在X染色体的区域，使用体细胞杂交面板。然后通过将它们定位在酵母人工染色体（YAC）上进行定位。经PCR筛选鉴定出17条同源的YACs ESTs，其中12条已组装到含有多态性和其他X染色体标记的YAC contigs中。其中两种在小鼠体内也产生了相同的产物。因此，定位ESTs相对于多态标记将有助于组装一个完整的染色体物理和转录图谱，并为疾病基因搜索提供候选者。
Expressed sequence tags (ESTs) can in principle serve as specialized sequence tagged sites (STSs) to assemble a functional map of the human genome. The strategy of physically linking ESTs to the nearest genetic linkage markers should provide specific candidate genes for the X-linked diseases associated with these markers or loci. Therefore, 19 ESTs assigned to the X chromosome in the Genome Database (GDB) were analyzed. Eighteen were confirmed to be X-specific and were localized to regions of the X chromosome using a panel of somatic cell hybrids. Localization was then refined by positioning them on yeast artifical chromosome (YAC) based maps. Seventeenth ESTs identified cognate YACs by PCR screening and 12 of the ESTs have been assembled in YAC contigs containing polymorphic and other X chromosomal markers. Two of them also produced syntenically equivalent products in mouse. Thus localizing ESTs relative to polymorphic markers will help to assemble an integrated physical and transcriptional map of the chromosome and provide candidates for disease-gene searches.