人类染色体3p上冯·希佩尔-林道基因区域的长程限制图谱。

Long range restriction map of the von Hippel-Lindau gene region on human chromosome 3p.

作者信息

Szymanski S C, Hummerich H, Latif F, Lerman M I, Röhrborn G, Schröder E

机构信息

Department of Internal Medicine (Cancer Research), University of Essen Medical School, Germany.

出版信息

Hum Genet. 1993 Oct 1;92(3):282-8. doi: 10.1007/BF00244473.

DOI:10.1007/BF00244473

PMID:8406436

Abstract

Von Hippel-Lindau disease is a heritable tumour syndrome caused by the loss of the function of a tumour suppressor gene on the short arm of human chromosome 3. The interval RAF1-D3S18 (3p25-3p26) has been identified by genetic linkage studies to harbour the von Hippel-Lindau gene. We have constructed a long range restriction map of this region and have succeeded in demonstrating the physical linkage of loci D3S726 (DNA probe LIB31-38), D3S18 (c-LIB-1, L162E5), D3S601 (LIB19-63) and D3S587 (LIB12-48). Since multipoint analysis has located D3S601 proximal to D3S726, the physical map should be oriented with D3S726 towards the telomere. The order and distances of probes within the von Hippel-Lindau gene region is as follows: telomere--LIB31-38--(< 280 kb)--c-LIB-1--(overlapping)--L162E5--(900-1600 kb)--(LIB19-63, LIB12-48)--centromere. In tissues that included blood, semen and Epstein-Barr-virus-transformed lymphocytes, we detected a putative CpG island flanking D3S18.

摘要

冯·希佩尔-林道病是一种遗传性肿瘤综合征，由人类3号染色体短臂上一个肿瘤抑制基因功能丧失引起。通过遗传连锁研究已确定RAF1-D3S18区间（3p25-3p26）含有冯·希佩尔-林道基因。我们构建了该区域的长距离限制性图谱，并成功证明了位点D3S726（DNA探针LIB31-38）、D3S18（c-LIB-1、L162E5）、D3S601（LIB19-63）和D3S587（LIB12-48）的物理连锁。由于多点分析已将D3S601定位在D3S726近端，物理图谱应以D3S726朝向端粒的方向排列。冯·希佩尔-林道基因区域内探针之间的顺序和距离如下：端粒-LIB31-38-（<280kb）-c-LIB-1-（重叠）-L162E5-（900-1600kb）-（LIB19-63、LIB12-48）-着丝粒。在包括血液、精液和爱泼斯坦-巴尔病毒转化淋巴细胞的组织中，我们检测到一个位于D3S18侧翼的假定CpG岛。