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关于5号染色体间质缺失,人类5号染色体上基因的排列顺序。

Order of genes on human chromosome 5q with respect to 5q interstitial deletions.

作者信息

Huebner K, Nagarajan L, Besa E, Angert E, Lange B J, Cannizzaro L A, van den Berghe H, Santoli D, Finan J, Croce C M

机构信息

Fels Institute for Cancer Research and Molecular Biology, Temple University School of Medicine, Philadelphia, PA 19140.

出版信息

Am J Hum Genet. 1990 Jan;46(1):26-36.

Abstract

Using (a) somatic cell hybrids retaining partial chromosome 5 and (b) clinical samples from patients with acquired deletions of the long arm of chromosome 5, combined with chromosome 5-linked DNA probes, some of which exhibited RFLPs, we have determined the order of a series of genes on chromosome 5. The order established is 5pter----MLVI-2----cen----HEXB----DHFR----Pi227- --- cp12.6----(IL5,IL4)----IL3----GMCSF---- FGFA---- (CSF1R,PDGFR)----(treC,ADRBR)----(ARH-H9,CSF1 )----qter. The suggested order and orientation for the closely linked IL3/GMCSF gene pair is cen----5' IL3 3'----5' GMCSF 3'----qter, on the basis of analysis of the GMCSF rearrangement in HL60 DNA. The map position of the GRL locus, which was consistent with both somatic cell hybrid and 5q- analyses, was telomeric to GMCSF and centromeric to CSF1R/PDGFR, near FGFA. Long-range restriction-enzyme analysis of 5q- DNAs did not detect rearrangements of 5q-linked probes except in HL60 DNA, but it did reveal putative long-range RFLPs of several loci. RFLPs for GRL, Pi227, cp12.6, IL3, and CSF1R can detect deletions in bone marrow and in leukemia cells from patients with acquired 5q deletions.

摘要

利用(a)保留部分5号染色体的体细胞杂种和(b)来自5号染色体长臂获得性缺失患者的临床样本,结合与5号染色体连锁的DNA探针(其中一些表现出限制性片段长度多态性,RFLP),我们确定了5号染色体上一系列基因的顺序。确定的顺序是5pter----MLVI-2----cen----HEXB----DHFR----Pi227----cp12.6----(IL5,IL4)----IL3----GMCSF----FGFA----(CSF1R,PDGFR)----(treC,ADRBR)----(ARH-H9,CSF1)----qter。基于对HL60 DNA中GMCSF重排的分析,紧密连锁的IL3/GMCSF基因对的建议顺序和方向是cen----5' IL3 3'----5' GMCSF 3'----qter。GRL基因座的图谱位置与体细胞杂种分析和5q-分析均一致,位于GMCSF的端粒侧且CSF1R/PDGFR的着丝粒侧,靠近FGFA。对5q- DNA进行的长距离限制性酶切分析未检测到5q连锁探针的重排,HL60 DNA除外,但确实揭示了几个基因座的推定长距离RFLP。GRL、Pi227、cp12.6、IL3和CSF1R的RFLP可检测获得性5q缺失患者骨髓和白血病细胞中的缺失。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/05f0/1683525/b11d00ba7a82/ajhg00098-0033-a.jpg

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