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X染色体p22.3 - p21.3区域35兆碱基区域的综合物理图谱和遗传图谱。

An integrated physical and genetic map of a 35 Mb region on chromosome Xp22.3-Xp21.3.

作者信息

Ferrero G B, Franco B, Roth E J, Firulli B A, Borsani G, Delmas-Mata J, Weissenbach J, Halley G, Schlessinger D, Chinault A C, Zoghbi H Y, Nelson D L, Ballabio A

机构信息

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

出版信息

Hum Mol Genet. 1995 Oct;4(10):1821-7. doi: 10.1093/hmg/4.10.1821.

DOI:10.1093/hmg/4.10.1821
PMID:8595402
Abstract

We have constructed a detailed physical map of the 35 Mb region spanning human chromosome Xp22.3-Xp21.3. The backbone of the map is represented by a single oriented contiguous stretch of 585 overlapping yeast artificial chromosome (YAC) clones covering the entire region. The map is formatted with 615 map objects that include 324 YACs, 185 sequence tagged sites, 28 genes, 85 chromosomal breakpoints and 37 highly polymorphic markers. Physical mapping was both guided and confirmed using 183 bins defined by chromosomal breakpoints and by overlapping regions of YAC clones. The localization of polymorphic markers in the physical map permits the integration of physical and genetic data across the region. These data establish chromosome Xp22.3-Xp21.3 as one of the best characterized large regions in the human genome. The map should greatly facilitate finer scale mapping and sequencing as well as the identification of disease genes from this portion of the human genome.

摘要

我们构建了一个详细的物理图谱,涵盖人类X染色体p22.3 - Xp21.3区域,跨度为35兆碱基对。该图谱的骨干由585个重叠的酵母人工染色体(YAC)克隆组成的单一有向连续片段代表,覆盖了整个区域。该图谱包含615个图谱对象,其中包括324个YAC、185个序列标签位点、28个基因、85个染色体断点和37个高度多态性标记。利用由染色体断点和YAC克隆重叠区域定义的183个区间,对物理图谱进行了引导和确认。多态性标记在物理图谱中的定位使得该区域的物理数据和遗传数据得以整合。这些数据表明,X染色体p22.3 - Xp21.3区域是人类基因组中特征最明确的大区域之一。该图谱将极大地促进更精细的图谱绘制和测序工作,以及从人类基因组的这一部分中鉴定疾病基因。

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