Long range restriction map of the von Hippel-Lindau gene region on human chromosome 3p |
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| Authors: | Susanne C Szymanski Holger Hummerich Farida Latif Michael I Lerman Gunter Röhrborn Elisabeth Schröder |
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| Institution: | (1) Department of Internal Medicine (Cancer Research), University of Essen Medical School, Hufelandstr. 55, D-45147 Essen, Germany;(2) Genome Analysis Laboratory, Imperial Cancer Research Fund, 44 Lincoln's Inn Fields, WC2A 3PX London, UK;(3) Laboratory of Immunobiology, National Cancer Institute, Frederick Cancer Research and Development Center, 21701 Frederick, Maryland, USA;(4) Medical Department of the University of Düsseldorf, Institute for Human Genetics and Anthropology, Moorenstr. 5, D-40225 Düsseldorf, Germany |
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| 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 identfied 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 (LIB1963) and D3S587 (LIB 12–48). 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 — LIB3138 — (<280 kb) — c-LIB-1 — (overlapping) — L162E5 — (900–1600 kb) — (LIB 19-63, LIB 12–48) — centromere. In tissues that included blood, semen and Epstein-Barrvirus-transformed lymphocytes, we detected a putative CpG island flanking D3S18. |
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