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人类X染色体q27区域的大规模物理图谱:凝血因子IX基因和mcf.2转化序列之间最多相隔270千碱基对,且被多个“HTF岛”环绕。

Large scale physical mapping in the q27 region of the human X chromosome: the coagulation factor IX gene and the mcf.2 transforming sequence are separated by at most 270 kilobase pairs and are surrounded by several 'HTF islands'.

作者信息

Nguyen C, Pontarotti P, Birnbaum D, Chimini G, Rey J A, Mattei J F, Jordan B R

机构信息

Centre d'Immunologie INSERM-CNRS de Marseille-Luminy, France.

出版信息

EMBO J. 1987 Nov;6(11):3285-9. doi: 10.1002/j.1460-2075.1987.tb02647.x.

Abstract

In spite of the large amount of genetic data obtained on the X chromosome and of the availability of many cloned sequences little is known about the physical map of this chromosome. The construction of large-scale restriction maps is now possible with pulsed field gel methods and data has recently been obtained in the region of band Xq28. We present here results of physical mapping in the Xq27 region, i.e. proximal to the fragile site at Xq27.3 associated with mental retardation, and show physical linkage between the coagulation factor IX gene and the mcf.2 transforming sequence recently localized to Xq27. Our data also indicate partial methylation of some sites in this region, and locate several 'HTF islands', i.e. CpG-rich, unmethylated sequences, containing several sites for 'rare cutter' enzymes, which are believed to be associated with expressed 'housekeeping' genes.

摘要

尽管已获得了大量关于X染色体的遗传数据,并且有许多克隆序列可供使用,但对这条染色体的物理图谱却知之甚少。现在,利用脉冲场凝胶方法构建大规模限制性图谱已成为可能,最近在Xq28带区已获得了相关数据。我们在此展示了Xq27区域物理图谱构建的结果,即靠近与智力发育迟缓相关的Xq27.3脆性位点的近端区域,并显示了凝血因子IX基因与最近定位于Xq27的mcf.2转化序列之间的物理连锁关系。我们的数据还表明该区域某些位点存在部分甲基化现象,并定位了几个“HTF岛”,即富含CpG的未甲基化序列,其中含有几个“稀有切割酶”位点,据信这些位点与表达的“管家”基因相关。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e41f/553781/bd7cdbdca690/emboj00251-0087-a.jpg

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