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利用CMGT标记从HRAS1基因搭便车到WAGR基因座。

Hitch-hiking from HRAS1 to the WAGR locus with CMGT markers.

作者信息

Bickmore W, Christie S, van Heyningen V, Hastie N D, Porteous D J

机构信息

MRC Clinical and Population Cytogenetics Unit, Western General Hospital, Edinburgh, UK.

出版信息

Nucleic Acids Res. 1988 Jan 11;16(1):51-60. doi: 10.1093/nar/16.1.51.

Abstract

The clinical association of Wilms' tumour with aniridia, genitourinary abnormalities and mental retardation (WAGR syndrome) is characterised cytogenetically by variable length, constitutional deletion of the short arm of chromosome 11, which always includes at least part of band 11p13. HRAS1-selected chromosome mediated gene transfer (CMGT) generated a transformant, E65-6, in which the only human genes retained map either to band 11p13 or, with HRAS1, in the region 11p15.4-pter. Human recombinants isolated from E65-6 were mapped to a panel of five WAGR deletion hybrids and two clinically related translocations. We show that E65-6 is enriched congruent to 400-fold for 11p15.4-pter markers and congruent to 200-fold for 11p13 markers. 'Hitch-hiking' from HRAS1 with CMGT markers has allowed us to define seven discrete intervals which subtend band 11p13. Both associated translocations co-locate within the smallest region of overlap for the WAGR locus, which has been redefined by identifying a new interval closer than FSHB.

摘要

肾母细胞瘤与无虹膜、泌尿生殖系统异常及智力发育迟缓(WAGR综合征)的临床关联在细胞遗传学上的特征是11号染色体短臂发生长度可变的先天性缺失,该缺失总是至少包括11p13带的一部分。通过HRAS1选择的染色体介导基因转移(CMGT)产生了一个转化体E65 - 6,其中保留的唯一人类基因要么定位于11p13带,要么与HRAS1一起定位于11p15.4 - pter区域。从E65 - 6分离出的人类重组体被定位到一组五个WAGR缺失杂种细胞系和两个临床相关的易位。我们表明,E65 - 6中11p15.4 - pter标记富集了约400倍,11p13标记富集了约200倍。通过CMGT标记与HRAS1的“搭车”效应,我们定义了七个横跨11p13带的离散区间。两个相关的易位都位于WAGR基因座重叠的最小区域内,通过鉴定一个比FSHB更近的新区间,该区域已被重新定义。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/256e/334612/64eb1a56dc98/nar00143-0067-a.jpg

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