Mapping of von Hippel-Lindau disease to chromosome 3p confirmed by genetic linkage analysis.
J Neurol Sci
; 100(1-2): 27-30, 1990 Dec.
Article
em En
| MEDLINE
| ID: mdl-1982450
ABSTRACT
Genetic linkage studies were performed in 12 British families with von Hippel-Lindau disease (VHL) using RFLPs at three loci (DNF15S2, THRB, RAF1) on the short arm of chromosome 3. Linkage was detected between the VHL disease locus and RAF1 with a maximum lod score of 3.88 at a recombination fraction of 0.05 (confidence interval 0.003-0.18). Multipoint linkage analysis suggested that the most likely location for the VHL disease locus is telomeric to THRB. These results confirm earlier reports localizing the VHL gene to the short arm of chromosome 3, and provide no evidence for genetic heterogeneity.
Buscar no Google
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Cromossomos Humanos Par 3
/
Síndromes Neoplásicas Hereditárias
/
Doença de von Hippel-Lindau
Limite:
Humans
Idioma:
En
Revista:
J Neurol Sci
Ano de publicação:
1990
Tipo de documento:
Article
País de afiliação:
Reino Unido