表达序列标签（ESTs）与X染色体上多态性标记的物理连锁

Physical linkage of expressed sequence tags (ESTs) to polymorphic markers on the X chromosome.

作者信息

Mazzarella R, Srivastava A K

机构信息

Department of Molecular Microbiology, Washington University School of Medicine, St Louis, MO 63110.

出版信息

Hum Mol Genet. 1994 Jul;3(7):1095-101. doi: 10.1093/hmg/3.7.1095.

DOI:10.1093/hmg/3.7.1095

PMID:7981677

Abstract

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 artificial chromosome (YAC)-based maps. Seventeen 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.

摘要

表达序列标签（ESTs）原则上可作为特殊的序列标签位点（STSs）来构建人类基因组的功能图谱。将ESTs与最邻近的遗传连锁标记进行物理连接的策略，应该能为与这些标记或基因座相关的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）中分配到X染色体上的19个ESTs。其中18个被确认为X特异性的，并使用一组体细胞杂种将它们定位到X染色体的区域。然后通过将它们定位在基于酵母人工染色体（YAC）的图谱上对定位进行细化。17个ESTs通过PCR筛选鉴定出同源YACs，其中12个ESTs已组装到包含多态性和其他X染色体标记的YAC重叠群中。其中两个在小鼠中也产生了同线性等效产物。因此，相对于多态性标记定位ESTs将有助于构建染色体的综合物理和转录图谱，并为疾病基因搜索提供候选基因。