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围绕类固醇硫酸酯酶基因座的人类X染色体短臂远端的长程限制酶切图谱。

A long range restriction map of the distal human X chromosome short arm around the steroid sulfatase locus.

作者信息

Li X M, Yen P, Mohandas T, Shapiro L J

机构信息

Howard Hughes Medical Institute Laboratories, Department of Pediatrics, UCLA School of Medicine.

出版信息

Nucleic Acids Res. 1990 May 11;18(9):2783-8. doi: 10.1093/nar/18.9.2783.

Abstract

The distal short arm of the human X chromosome is of interest because it contains genes which escape X chromosome inactivation and because it is subject to frequent deletions in human patients. The steroid sulfatase gene has been particularly well studied as an example of a gene which escapes X inactivation and which is included in a number of these deletion events. For these reasons a physical map of the region around the STS gene would be of interest. We have constructed a rare cutting enzyme map of this area and have determined the position of several nearby markers with respect to STS. We have also oriented the 5' and 3' ends of the STS gene on this map and have determined the centromeric and telomeric portions of the region. Finally, we have shown that this map can be used to locate deletion breakpoints in STS deficient patients.

摘要

人类X染色体的远端短臂备受关注,因为它包含逃避X染色体失活的基因,且在人类患者中常发生缺失。类固醇硫酸酯酶基因作为一个逃避X失活且参与众多此类缺失事件的基因实例,已得到特别深入的研究。基于这些原因,STS基因周围区域的物理图谱将会很有意义。我们构建了该区域的稀有切割酶图谱,并确定了几个邻近标记相对于STS的位置。我们还在这张图谱上确定了STS基因的5'端和3'端,并确定了该区域的着丝粒和端粒部分。最后,我们证明了这张图谱可用于定位STS缺陷患者的缺失断点。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6f6d/330764/d22dfa2d8c5c/nar00193-0196-a.jpg

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