Detection of germline deletions using real-time quantitative polymerase chain reaction in Japanese patients with von Hippel-Lindau disease

Cancer Science
Keiko HattoriMasahiro Yao

Abstract

Germline mutations of the VHL gene are responsible for VHL. Approximately 70% of VHL families display small intragenic mutations detectable by sequencing, whereas partial- or whole-gene deletions have been described in the majority of the remaining families. For such large deletions, complex genetic techniques other than sequencing might have to be used. In this study, we describe an RQ-PCR assay with TaqMan fluorescent probes to detect germline VHL deletions. The RQ-PCR primer/probe sets were designed for the three VHL coding exons as well as for the 5' promoter and 3' untranslated regions. The RQ-PCR assay for 30 normal and 10 known VHL deletion control samples demonstrated high sensitivity and specificity. We then screened 29 individuals from 19 classical VHL families (16 type 1, 2 type 2A, and one type 2B) and one PHEO family, as well as four solitary suspected cases, none displaying any sequence changes, for VHL deletions by the RQ-PCR assay. We detected germline deletions in 17 (89%) classical families including 15 type 1, one type 2A, and one type 2B. We also identified two mutation carriers and two non-carriers in our family cohort. The one PHEO family and four solitary cases did not display any deletion patterns. These...Continue Reading

References

Nov 11, 1998·Nature Medicine·L FinkR M Bohle
Dec 29, 1999·Human Mutation·A MurgiaG Opocher
Feb 28, 2002·Proceedings of the National Academy of Sciences of the United States of America·O M SieberK Heinimann
May 10, 2002·The New England Journal of Medicine·Hartmut P H NeumannUNKNOWN Freiburg-Warsaw-Columbus Pheochromocytoma Study Group
Sep 28, 2002·Human Molecular Genetics·Eamonn R Maher, Charis Eng
Mar 12, 2003·The Journal of Clinical Endocrinology and Metabolism·Frederik J HesCornelis J M Lips
Jun 20, 2003·Lancet·Russell R LonserEdward H Oldfield
Dec 8, 2004·Current Molecular Medicine·Eamonn R Maher
Dec 21, 2004·Laboratory Investigation; a Journal of Technical Methods and Pathology·Jasmien HoebeeckJo Vandesompele
Dec 22, 2004·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·William Y Kim, William G Kaelin

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Citations

Mar 17, 2009·Journal of Molecular Medicine : Official Organ of the Gesellschaft Deutscher Naturforscher Und Ärzte·Jing-Shan HuangChi-Jung Huang
Sep 27, 2006·Pituitary·Akihiro SakuraiYoshimitsu Fukushima
Mar 23, 2012·Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Métabolisme·G EisenhoferK Pacak
May 31, 2012·Molekuliarnaia biologiia·D S MikhaĭlenkoD V Zaletaev
Feb 12, 2013·Familial Cancer·Andrew EbenazerRekha Pai
Jun 28, 2008·Cancer Investigation·Thereasa A RichCamilo Jimenez
May 2, 2013·Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia·Dandan JiaHong Jiang
May 26, 2009·European Journal of Medical Genetics·Paola CiottiPaola Mandich
Jun 1, 2007·European Journal of Clinical Investigation·J S HuangC M Lin
Feb 14, 2009·American Journal of Medical Genetics. Part a·James C BartonCatherine A Stolle
Mar 18, 2011·Genes, Chromosomes & Cancer·Jihane N BenhammouW Marston Linehan
Oct 4, 2007·Analytical Biochemistry·Vu Q NguyenSteve S Sommer

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