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人类SP-A和SP-D基因座在10q22 - q23的组织。物理图谱和辐射杂种图谱揭示了基因顺序和方向。

Organization of the human SP-A and SP-D loci at 10q22-q23. Physical and radiation hybrid mapping reveal gene order and orientation.

作者信息

Hoover R R, Floros J

机构信息

Department of Cellular and Molecular Physiology, Pennsylvania State University College of Medicine, Hershey, Pennsylvania 17033, USA.

出版信息

Am J Respir Cell Mol Biol. 1998 Mar;18(3):353-62. doi: 10.1165/ajrcmb.18.3.3035.

Abstract

The human surfactant protein (SP) A locus has been assigned to chromosome 10q22-q23 and consists of two very similar genes, SP-A1 and SP-A2, as well as a truncated pseudogene. SP-A belongs to the family of collagenous C-type lectins along with mannose binding protein (MBP) and SP-D, both of which have also been mapped to the long arm of chromosome 10. In this article we report the relative location and orientation of each of the SP-A and SP-D genomic sequences. Characterization of two overlapping genomic clones revealed that the SP-A pseudogene lies in a reverse orientation 15 kb away from the 5' side of SP-A1. This finding was verified by the amplification of the entire SP-A pseudogene/SP-A1 intergenic region using long-range polymerase chain reaction. The relative location of SP-A2 and SP-D was then ascertained by testing a number of sequence tagged sites against the Stanford TNG3 and G3 radiation hybrid panels. The radiation hybrid mapping data showed that both SP-A2 and SP-D are on the 5' side of SP-A1 at approximate distances of 40 kb and 120 kb, respectively. The SP-A and SP-D loci were also oriented relative to the centromere, with the overall order being: centromere-SP-D-SP-A2-pseudogene-SP-A1- telomere.

摘要

人表面活性蛋白(SP)A基因座已被定位于染色体10q22 - q23,由两个非常相似的基因SP - A1和SP - A2以及一个截短的假基因组成。SP - A与甘露糖结合蛋白(MBP)和SP - D同属胶原性C型凝集素家族,后两者也已被定位于染色体10的长臂。在本文中,我们报告了每个SP - A和SP - D基因组序列的相对位置和方向。对两个重叠基因组克隆的表征显示,SP - A假基因以反向排列位于距SP - A1 5'端15 kb处。通过使用长距离聚合酶链反应扩增整个SP - A假基因/SP - A1基因间区域,这一发现得到了验证。然后通过针对斯坦福TNG3和G3辐射杂种细胞系检测多个序列标签位点,确定了SP - A2和SP - D的相对位置。辐射杂种细胞系定位数据表明,SP - A2和SP - D均位于SP - A1的5'端,距离分别约为40 kb和120 kb。SP - A和SP - D基因座也相对于着丝粒进行了定位,总体顺序为:着丝粒 - SP - D - SP - A2 - 假基因 - SP - A1 - 端粒。

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