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人类Xq21.3至q23/q24(DXS1203 - DXS1059)的综合STS/YAC物理、遗传和转录图谱。

Integrated STS/YAC physical, genetic, and transcript map of human Xq21.3 to q23/q24 (DXS1203-DXS1059).

作者信息

Srivastava A K, McMillan S, Jermak C, Shomaker M, Copeland-Yates S A, Sossey-Alaoui K, Mumm S, Schlessinger D, Nagaraja R

机构信息

J. C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina, 29646, USA.

出版信息

Genomics. 1999 Jun 1;58(2):188-201. doi: 10.1006/geno.1999.5820.

Abstract

A map has been assembled that extends from the XY homology region in Xq21.3 to proximal Xq24, approximately 20 Mb, formatted with 200 STSs that include 25 dinucleotide repeat polymorphic markers and more than 80 expressed sequences including 30 genes. New genes HTRP5, CAPN6, STPK, 14-3-3PKR, and CALM1 and previously known genes including BTK, DDP, GLA, PLP, COL4A5, COL4A6, PAK3, and DCX are localized; candidate loci for other disorders for which genes have not yet been identified, including DFN-2, POF, megalocornea, and syndromic and nonsyndromic mental retardation, are also mapped in the region. The telomeric end of the contig overlaps a yeast artificial chromosome (YAC) contig from Xq24-q26 and with other previously published contigs provides complete sequence-tagged site (STS)/YAC-based coverage of the long arm of the X chromosome. The order of published landmark loci in genetic and radiation hybrid maps is in general agreement. Combined with high-density STS landmarks, the multiple YAC clone coverage and integrated genetic, radiation hybrid, and transcript map provide resources to further disease gene searches and sequencing.

摘要

一张图谱已绘制完成,其范围从Xq21.3的XY同源区域延伸至Xq24近端,约20兆碱基对,由200个序列标签位点(STS)构成,其中包括25个二核苷酸重复多态性标记以及80多个表达序列,含30个基因。新基因HTRP5、CAPN6、STPK、14 - 3 - 3PKR和CALM1以及先前已知的基因,包括BTK、DDP、GLA、PLP、COL4A5、COL4A6、PAK3和DCX均已定位;其他尚未鉴定出基因的疾病的候选基因座,包括DFN - 2、POF、大角膜以及综合征型和非综合征型智力迟钝,也在该区域进行了定位。重叠群的端粒末端与来自Xq24 - q26的酵母人工染色体(YAC)重叠群相交,并且与其他先前发表的重叠群一起,提供了基于序列标签位点(STS)/YAC的X染色体长臂的完整覆盖。遗传图谱和辐射杂种图谱中已发表的标志性基因座的顺序总体上是一致的。结合高密度的序列标签位点(STS)标志物,多个YAC克隆覆盖以及整合的遗传、辐射杂种和转录图谱为进一步的疾病基因搜索和测序提供了资源。

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