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Detailed mapping of germline deletions of the von Hippel-Lindau disease tumour suppressor gene


, : Detailed mapping of germline deletions of the von Hippel-Lindau disease tumour suppressor gene. Human Molecular Genetics 3(4): 595-598

Von Hippel-Lindau disease is a dominantly inherited familial cancer syndrome characterised by the development of retinal angiomatosis, cerebellar and spinal hemangioblastoma, renal cell carcinoma, phaeochromocytoma and pancreatic tumours. A cDNA (g7) which detects frequent genomic rearrangements in VHL disease patients on Southern analysis, and contains the partial coding sequence of the VHL gene has been isolated recently. To characterise the nature of the genomic rearrangements in VHL disease we initially screened 116 patients with VHL disease and identified 22 patients (19%) with abnormal fragments in EcoR1 digested DNA probed with g7. We then established that the coding sequence contained within g7 is represented in 3 exons, and designed exon specific probes to investigate the 22 patients with genomic rearrangements. All 22 patients were demonstrated to have germline deletions, but the deletions were heterogeneous with 7 patients having deletions confined to the 5' exon 1, and 8 with non-overlapping deletions of exon 3. In 7 unrelated patients, including 2 new mutations, the germline deletions were similar in size and position. There was no relationship between the clinical phenotype and the deletion of individual exons. Although phaeochromocytoma was less frequent in kindreds with germline deletions than those without detectable deletions, the difference was not statistically significant (1/19 versus 16/72 respectively, chi-2 = 1.84 p gt 0.1).

US$19.90

PMID: 8069305

DOI: 10.1093/hmg/3.4.595


Other references

Petznick, A.M.; Shubrook, J.H., 2010: Treatment of specific macrovascular beds in patients with diabetes mellitus. In 2007, over 23 million people had diabetes in the United States and death from cardiovascular disease is estimated to occur in 80% of those Americans. Risk factor reduction is the most important therapy for primary and secondary prevention of m...

Qu, L-Jia.; Chen, J.; Liu, M.; Pan, N.; Okamoto, H.; Lin, Z.; Li, C.; Li, D.; Wang, J.; Zhu, G.; Zhao, X.; Chen, X.; Gu, H.; Chen, Z., 2003: Molecular cloning and functional analysis of a novel type of Bowman-Birk inhibitor gene family in rice. Bowman-Birk inhibitor (BBI) genes encode serine protease inhibitors that have repetitive cysteine-rich domains with reactive sites for the trypsin or chymotrypsin family. We have identified seven BBI genes from japonica rice (Oryza sativa subsp. j...

El'kina, B.N., 1962: Data on the greenling of the southeastern Tartar Straits. Biology of the northern form of greenling from the southeastern part of the Tartar Straits (nutrition, growth, spawning season and commercial fishery).

Gadek, C.R.; Newsome, S.D.; Beckman, E.J.; Chavez, A.N.; Galen, S.C.; Bautista, E.; Witt, C.C., 2017: Why are tropical mountain passes 'low' for some species? Genetic and stable-isotope tests for differentiation, migration, and expansion in elevational generalist songbirds. 1.Most tropical bird species have narrow elevational ranges, likely reflecting climatic specialization. This is consistent with Janzen's Rule, the tendency for mountain passes to be effectively 'higher' in the tropics. Hence, those...

Heath, A.L.; Fairweather-Tait, S.; Worwood, M., 2001: Reference limits for haemoglobin and ferritin. If it's not broken, don't fix it. Bmj 323(7316): 806-7; Author Reply 807-8

Coche, E.; Verschuren, F.; Kefer, J., 2005: Acute coronary artery occlusion revealed by ECG-gated 16-slice CT scan of the whole chest. European Heart Journal 26(20): 2098-2098

Mathis, W.; Schoof, H.F., 1959: Organophosphorous compounds as residual treatments for adult mosquito control. American Journal of Tropical Medicine and Hygiene 8(1): 1-4

Lin Yi; Hong XueMei; Guan Xiong, 2004: Two putative parathion hydrolases founded by bioinformatics analysis. Two putative parathion hydrolases of Bacillus halodurans, namely PTEa and PTEb with 679 and 331 amino acid residues, respectively, were identified using the protein sequence of parathion hydrolase from Flavobacterium. Conserved domain search and m...

Howard, R., 1984: Regional reports. West. Eyas, 73: 14-16, 21

Li, Z., 1983: Raising pupils' levels in disadvantaged environments. The paper examines methods of raising pupils' levels of achievements in disadvantaged environments in China, including mountain areas, pastoral areas, sea and riverine areas, certain border areas and minority nationality areas. Since peculiar...