Deletions within the pseudoautosomal region help map three new markers and indicate a possible role of this region in linear growth.
Deletions within the pseudoautosomal region help map three new markers and indicate a possible role of this region in linear growth.
复制标题
伪常染色体区域内的缺失有助于绘制三个新标记，并表明该区域在线性生长中可能发挥的作用。
DOI：
10.4135/9781446279137.n558
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发表时间：
1991
影响因子：
9.8
通讯作者：
G. Rappold
中科院分区：
文献类型：
--
作者：
A. Henke;M. Wapenaar;G. van Ommen;P. Maraschio;G. Camerino;G. Rappold
身材矮小是一贯发现在个人与终端缺失的Xp。为了完善一个假定的影响身高的基因座的定位，我们分析了两名患者的假常染色体区域的部分单体性在分子水平上。通过剂量评价，使用8种假常染色体探针进行遗传缺失分析。其中三个代表新的标记（DXS 415，DXS 419，和DXS 406）定位在假常染色体图谱上的脉冲场凝胶电泳。我们的数据表明，一个基因座影响高度地图在一个区域约1.5 Mbp，远端的DXS 406基因座和近端的DXS 415基因座，一个区域，其中包括两个CpG岛，并排除了在X/Y端粒的非常远的序列的参与。
Short stature is consistently found in individuals with terminal deletions of Xp. In order to refine the localization of a putative locus affecting height, we analyzed two patients with a partial monosomy of the pseudoautosomal region at the molecular level. Eight pseudoautosomal probes were used for the genetic deletion analysis through dose evaluation. Three of them represent new markers (DXS415, DXS419, and DXS406) which were positioned on the pseudoautosomal map by pulsed field gel electrophoresis. Our data suggest that a locus affecting height maps in a region of about 1.5 Mbp, distal to the DXS406 locus and proximal to the DXS415 locus, a region which includes two CpG islands, and rule out an involvement of very distal sequences at the X/Y telomeres.
使用 X/Y 易位对人类 X 染色体远端短臂进行精细定位。
影响因子：
9.8
作者：
Geller,RL;Shapiro,LJ;Mohandas,TK
通讯作者：
Mohandas,TK