A novel mutation in Von Hippel-Lindau disease detected by SSCP of dideoxynucleotide sequence products
- Duke Univ. Medical Center, Durham, NC (United States); and others
VHL is an inherited tumor disease in which the defect has recently been partially cloned on chromosome 3p25. Only about 15-20% of mutations are currently known. Using SSCP analysis, we detected a new C to T transition in exon 3 of the VHL tumor-suppressor gene, which produces an umber stop codon. To enhance the sensitivity of the mutation search, we employed the modification of Liu, Q. et al. that applies SSCP to the various-sized products of the standard dideoxynucleotide sequence analysis. This allows the analysis of larger DNA fragments by SSCP. All 5 affected individuals tested in this family have the same point mutation. The new mutation reported here parallels previous observations of transcript truncation produced in this disorder.
- OSTI ID:
- 134776
- Report Number(s):
- CONF-941009-; ISSN 0002-9297; TRN: 95:005313-1515
- Journal Information:
- American Journal of Human Genetics, Vol. 55, Issue Suppl.3; Conference: 44. annual meeting of the American Society of Human Genetics, Montreal (Canada), 18-22 Oct 1994; Other Information: PBD: Sep 1994
- Country of Publication:
- United States
- Language:
- English
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